Pharmaceutical & Biotech Companies
Companies developing treatments for rare diseases. Each profile shows active clinical trials from ClinicalTrials.gov and FDA-approved drugs from OpenFDA, updated in real time.
109
Companies
67
Specialists
42
Diversified
Showing 109 of 109 companies
CompanyDiseasesHeadquarters
NovartisDiversifiedNOVN
Novartis has one of the broadest rare disease portfolios in the industry, spanning neuroscience, hematology, immunology, and ophthalmology. Key products include Zolgensma (onasemnogene abeparvovec) for spinal muscular atrophy, Fabhalta (iptacopan) for paroxysmal nocturnal hemoglobinuria, and Jakavi (ruxolitinib) for myelofibrosis and polycythemia vera.
82diseases
Basel, Switzerland
Roche Holding AG / GenentechDiversifiedRHHBY
Roche, through its subsidiary Genentech, develops therapies across oncology, immunology, neurology, and rare diseases. The company applies its expertise in biotechnology and precision medicine to address rare genetic and complex diseases with limited treatment options.
65diseases
Basel, Switzerland
Pfizer Inc.DiversifiedPFE
Pfizer's rare disease medicines include Vyndamax (tafamidis) for transthyretin amyloid cardiomyopathy, Hympavzi (marstacimab) for hemophilia A and B, Somavert (pegvisomant) for acromegaly and Elelyso (taliglucerase alfa) for Gaucher disease. Its rare disease pipeline includes dazukibart for dermatomyositis in Phase 3. The company discontinued its Beqvez gene therapy for hemophilia B in February 2025.
64diseases
New York, United States
Sanofi / GenzymeDiversifiedSNYNF
Sanofi-Genzyme is the specialty care business unit of Sanofi with over 35 years of experience pioneering treatments for rare genetic diseases, particularly lysosomal storage disorders including Gaucher, Fabry, and Pompe diseases. The division operates across rare diseases, rare blood disorders, and immunology therapeutic areas.
54diseases
Paris, France
Takeda Pharmaceutical Company LimitedDiversified4502
Takeda became one of the world's largest rare disease companies through its 2019 acquisition of Shire, gaining a portfolio spanning hereditary angioedema (Takhzyro), Hunter syndrome (Elaprase), Gaucher disease (VPRIV), and hemophilia (ADVATE, ADYNOVATE). The company continues investing in rare hematology, immunology, and neuroscience programs.
47diseases
Tokyo, Japan
GlaxoSmithKlineDiversifiedGSK
GlaxoSmithKline (GSK) operates across multiple therapeutic areas including specialty medicines and rare diseases. The company divested its gene therapy portfolio to Orchard Therapeutics and maintains focus on rare disease treatments across its specialty care division.
46diseases
London, United Kingdom
AstraZeneca PLCDiversifiedAZN
AstraZeneca was formed in 1999 by the merger of Astra and Zeneca. It entered rare disease with Alexion, a deal announced at $39 billion and completed on July 21, 2021, and Alexion now runs as AstraZeneca's rare disease unit. Alexion's medicines, including Soliris, Ultomiris and Voydeya, are covered on the Alexion Pharmaceuticals page. AstraZeneca's own rare disease medicines include Koselugo (selumetinib) for plexiform neurofibromas in people with NF1 aged 1 and older, Wainua (eplontersen) for the nerve damage of hereditary ATTR amyloidosis in adults, and Fasenra (benralizumab) for adults with EGPA. The FDA is reviewing Ultomiris for IgA nephropathy, efzimfotase alfa for hypophosphatasia and gefurulimab for generalized myasthenia gravis.
45diseases
Cambridge, United Kingdom
Merck & Co., Inc.DiversifiedMRK
Merck is a global pharmaceutical company with a substantial rare disease presence through oncology and cardiovascular programs. The company's Keytruda franchise covers rare cancers including Merkel cell carcinoma and mesothelioma, while Winrevair (sotatercept) became the first activin signaling inhibitor approved for pulmonary arterial hypertension in 2024.
45diseases
Rahway, United States
Amgen Inc.DiversifiedAMGN
Amgen is a multinational biopharmaceutical company with growing focus on rare diseases, strengthened by the 2023 acquisition of Horizon Therapeutics. The company develops therapies for rare inflammatory diseases, genetic disorders, and severe unmet medical conditions.
42diseases
Thousand Oaks, United States
Bristol Myers SquibbDiversifiedBMY
Bristol Myers Squibb is a global biopharmaceutical company whose 2019 acquisition of Celgene significantly expanded its hematology and oncology portfolio. BMS develops treatments for myelofibrosis, thalassemia, and rare cancers, with Reblozyl (luspatercept) for beta thalassemia and active programs in rare immunologic conditions including myasthenia gravis.
38diseases
Princeton, United States
Eli Lilly and CompanyDiversifiedLLY
Eli Lilly is a global pharmaceutical company with a growing presence in rare oncology, anchored by its 2019 acquisition of Loxo Oncology. Its rare disease portfolio includes Retevmo (selpercatinib) for RET-driven cancers such as medullary thyroid cancer and RET fusion-positive solid tumors, and Jaypirca (pirtobrutinib) for relapsed or refractory mantle cell lymphoma and chronic lymphocytic leukemia after earlier treatment that included a BTK inhibitor. Lilly also has active trials in ALS, immune thrombocytopenia and, through its Prevail Therapeutics unit, Gaucher disease.
37diseases
Indianapolis, United States
Alexion PharmaceuticalsSpecialist
Alexion, now AstraZeneca's Rare Disease division following a $39 billion acquisition in 2021, is the pioneer of complement-targeted therapies. Key products include Soliris (eculizumab) and its successor Ultomiris (ravulizumab) for paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome, generalized myasthenia gravis, and neuromyelitis optica spectrum disorder. Voydeya (danicopan), the first oral Factor D inhibitor, was FDA-approved in March 2024 as add-on therapy to ravulizumab or eculizumab for clinically significant extravascular hemolysis in adults with PNH. The portfolio also includes Strensiq (asfotase alfa) for hypophosphatasia and Kanuma (sebelipase alfa) for lysosomal acid lipase deficiency.
31diseases
Boston, United States
BiogenDiversifiedBIIB
Biogen is a neurobiological company with strong focus on rare neurodegenerative and neurological diseases including spinal muscular atrophy, Friedreich's ataxia, and ALS. The company develops disease-modifying therapies for rare inherited neurological conditions.
31diseases
Cambridge, United States
Bayer AGDiversifiedBAYN
Bayer is a global pharmaceutical and life sciences company with a growing oncology portfolio that includes Vitrakvi (larotrectinib), the first FDA-approved treatment specifically targeting NTRK gene fusions across solid tumor types regardless of where the cancer originated. Bayer also maintains active clinical programs in rare hematologic and cardiovascular conditions.
25diseases
Leverkusen, Germany
AbbVie Inc.DiversifiedABBV
AbbVie is a pharmaceutical company with a significant rare disease portfolio including rare oncology and immunology treatments. The company develops therapies for rare conditions and pursues orphan drug designations to address diseases with limited treatment options.
24diseases
North Chicago, United States
Jazz PharmaceuticalsSpecialistJAZZ
Jazz Pharmaceuticals develops medicines for rare neurological and oncologic conditions. Following its $7.2 billion acquisition of GW Pharmaceuticals in 2021, the company's portfolio includes Epidiolex (cannabidiol) for Dravet syndrome, Lennox-Gastaut syndrome, and tuberous sclerosis complex, Xywav (calcium, magnesium, potassium, and sodium oxybates) for narcolepsy and idiopathic hypersomnia, and oncology products including Zepzelca for small cell lung cancer, Rylaze for acute lymphoblastic leukemia, Vyxeos for acute myeloid leukemia, and Ziihera (zanidatamab-hrii) for previously treated HER2-positive biliary tract cancer and, on its current label, first-line HER2-positive stomach and esophageal adenocarcinoma with chemotherapy. Jazz bought Chimerix in April 2025, and its drug Modeyso (dordaviprone) received FDA accelerated approval on August 6, 2025 for adults and children 1 year and older with diffuse midline glioma that carries an H3 K27M mutation and has grown after earlier treatment.
On September 15, 2026, Jazz completed its acquisition of Actio Biosciences for $820 million upfront plus up to $500 million tied to approval and sales milestones. The deal was for ABS-1230, an oral small molecule that blocks the KCNT1 ion channel, in development for KCNT1-related epilepsy. That is a rare genetic epilepsy affecting roughly 2,500 people in the United States, where children can have dozens or even hundreds of seizures a day and no FDA-approved treatment exists. The ongoing Phase 1b/2a KYRON trial is intended to support a U.S. new drug application. Actio spun out its other programs into a separate, independent company at closing, in which Jazz holds a minority stake.
22diseases
Dublin, Ireland
Astellas Pharma Inc.Diversified4503
Astellas Pharma is a Japanese multinational pharmaceutical company with dedicated gene therapy division focused on rare diseases of the eye, central nervous system, and neuromuscular systems. The company invests in innovative scientific approaches for genetically defined rare disorders.
20diseases
Tokyo, Japan
Incyte CorporationDiversifiedINCY
Incyte Corporation develops targeted therapies for rare blood cancers, graft-versus-host disease, and other rare hematologic and immunologic conditions. Key products include Jakafi (ruxolitinib), a JAK inhibitor approved for myelofibrosis, polycythemia vera, acute graft-versus-host disease, and chronic graft-versus-host disease; Pemazyre (pemigatinib) for cholangiocarcinoma; and NIKTIMVO (axatilimab), an anti-CSF1R antibody approved in 2024 for chronic graft-versus-host disease.
19diseases
Wilmington, United States
Ionis PharmaceuticalsDiversifiedIONS
Ionis Pharmaceuticals is a leader in antisense oligonucleotide (ASO) therapies targeting RNA for rare genetic, neurological, and cardiovascular diseases. Approved products include Tryngolza (olezarsen) for familial chylomicronemia syndrome (2024), Dawnzera (donidalorsen) for hereditary angioedema (2025), and Zanvastro (zilganersen), approved in September 2026 as the first and only treatment for Alexander disease. Through its partnership with Biogen, Ionis developed tofersen (Qalsody) for SOD1-ALS and Spinraza for spinal muscular atrophy. The pipeline includes ION582 for Angelman syndrome (Phase 3) and sefaxersen, partnered with Roche, for IgA nephropathy, which met its primary proteinuria endpoint at a prespecified interim analysis of the Phase 3 IMAgINATION study in September 2026.
19diseases
Carlsbad, United States
Novo NordiskDiversifiedNVO
Novo Nordisk, formed in 1989 from the merger of Nordisk Insulinlaboratorium (founded 1923) and Novo Terapeutisk Laboratorium (founded 1925), is best known for diabetes and obesity medicines and also runs a rare blood and growth disorder business. Its hemophilia medicines include Alhemo (concizumab), a daily injection under the skin approved for people 12 and older with hemophilia A or B with or without inhibitors, and Rebinyn, a long-acting factor IX. Its growth hormones Norditropin and Sogroya are approved for growth hormone deficiency and for children with conditions such as Noonan syndrome, and Rivfloza (nedosiran), which came with its 2021 purchase of Dicerna, treats primary hyperoxaluria type 1. In development are denecimig (Mim8) for hemophilia A, whose FDA review Novo said on October 2, 2026 had been extended with no new date, etavopivat for sickle cell disease and thalassemia, and coramitug for ATTR amyloid cardiomyopathy, both in Phase 3.
19diseases
Bagsværd, Denmark
UCBDiversifiedUCB
UCB is a Belgian pharmaceutical company headquartered in Brussels, founded in 1928 and listed on Euronext Brussels. It employs more than 9,000 people in about 40 countries and reported EUR 7.7 billion in revenue for 2025, most of it from immunology medicines like Bimzelx and Cimzia. Its U.S. operations are based near Atlanta, with global clinical development run out of Research Triangle Park, North Carolina, and in March 2026 the company announced a $2 billion biologics plant in Georgia, its first U.S. manufacturing site. For the rare disease community, UCB matters because of two franchises: myasthenia gravis and severe childhood epilepsies.
In generalized myasthenia gravis, an autoimmune disease in which antibodies interfere with the signal between nerves and muscles, UCB launched two new medicines within four months of each other in 2023. Rystiggo (rozanolixizumab), approved June 26, 2023, blocks a receptor called FcRn so the body clears harmful IgG antibodies faster, and it was the first therapy approved for both anti-AChR and anti-MuSK antibody-positive patients. Zilbrysq (zilucoplan), approved October 17, 2023, is a once-daily self-injection that blocks complement protein C5 for anti-AChR positive adults. Together they brought in EUR 549 million in 2025 and were being used by more than 3,700 patients by year end. UCB is now running Phase 3 studies of rozanolixizumab in ocular myasthenia gravis (started mid-2026, results expected in 2029) and in MOG antibody-associated disease, a rare inflammatory condition of the optic nerves, brain, and spinal cord, where the fully enrolled cosMOG trial is expected to read out in the second half of 2027. Both myasthenia drugs are also in Phase 2/3 trials in children. A newer approach, a T-cell engager called cizutamig that came with the $2 billion acquisition of Candid Therapeutics in June 2026, is planned to enter Phase 2 in myasthenia gravis by the end of 2026.
The epilepsy side of the business grew out of UCB's long history with Keppra, Vimpat, and Briviact for focal seizures, and its 2022 acquisition of Zogenix brought Fintepla (fenfluramine), approved for seizures in Dravet syndrome in 2020 and Lennox-Gastaut syndrome in 2022. After the GEMZ Phase 3 study met its goal in 2025, UCB filed Fintepla for CDKL5 deficiency disorder with the FDA in March 2026, and a Phase 3 trial of fenfluramine in Rett syndrome started in 2026 with results expected in 2029. On November 3, 2025, the FDA approved Kygevvi (doxecitine and doxribtimine), the first and only treatment for thymidine kinase 2 deficiency, a rare mitochondrial disease that causes progressive muscle weakness; in the pivotal analysis the therapy was associated with roughly an 86% reduction in the risk of death compared with matched untreated patients, and Europe followed with approval in March 2026. UCB also acquired Neurona Therapeutics in June 2026 for its cell therapy rezanecel, which is expected to begin a Phase 3 trial in drug-resistant mesial temporal lobe epilepsy in the first half of 2027.
Not everything has worked. A Phase 2 study of rozanolixizumab in fibromyalgia was stopped in 2024 after missing its progression criteria, and a study in a rare autoimmune encephalitis was ended early. Bepranemab, an antibody against tau protein for Alzheimer's disease, missed the primary endpoint of its Phase 2 study, though UCB plans a follow-up trial in 2027 based on a signal in patients with lower tau levels.
19diseases
Brussels, Belgium
Alnylam PharmaceuticalsSpecialistALNY
Alnylam Pharmaceuticals is one of the longest bets in modern biotech. The company was founded in Cambridge, Massachusetts in 2002 to commercialize a then-new technology called RNA interference (RNAi), a gene-silencing mechanism that would later win its discoverers the Nobel Prize in Physiology or Medicine in 2006. RNAi works by using small pieces of RNA to silence specific disease-causing genes before the body can make harmful proteins from them. Translating that science into actual approved medicines took Alnylam roughly 16 years of research and several billion dollars in R&D. The company now has six approved drugs across a portfolio of rare and chronic diseases and trades on the NASDAQ under the ticker ALNY.
Alnylam's first approval came in 2018, when Onpattro (patisiran) was cleared by the FDA for the polyneuropathy form of hereditary transthyretin (ATTR) amyloidosis, a rare disease where misfolded proteins build up in nerves and organs. Amvuttra (vutrisiran) followed and offered the same family of patients a less frequent injection schedule. Givlaari (givosiran) treats acute hepatic porphyria, a disease that causes severe pain attacks and neurological symptoms, while Oxlumo (lumasiran) treats primary hyperoxaluria type 1, a condition where the liver overproduces a chemical called oxalate that then damages the kidneys.
In hemophilia, Alnylam developed fitusiran, which Sanofi now markets as Qfitlia. The FDA approved Qfitlia on March 28, 2025 for both hemophilia A and B, with or without inhibitors, making it the first RNAi therapeutic for hemophilia. The drug offers a less frequent dosing alternative to existing factor replacement and bispecific antibody options. Alnylam also discovered inclisiran, which Novartis markets as Leqvio for adults with high cholesterol who cannot reach their LDL targets on statins alone.
Pipeline programs in development extend RNAi into hereditary hemorrhagic telangiectasia (a rare bleeding disorder caused by abnormal blood vessels) and Huntington's disease (a hereditary neurodegenerative disorder), among others. The strategic thesis has not changed since 2002. Find diseases where silencing a single gene can change the course of the illness, and bring patients a precise medicine that addresses the root cause rather than the symptoms.
18diseases
Cambridge, United States
Regeneron PharmaceuticalsDiversifiedREGN
Regeneron Pharmaceuticals is a Tarrytown, New York biotech best known for antibody medicines. Its rare disease medicines include Evkeeza (evinacumab) for homozygous familial hypercholesterolemia, approved in February 2021, Veopoz (pozelimab) for CHAPLE disease, approved in August 2023, and Lynozyfic (linvoseltamab) for relapsed or refractory multiple myeloma, approved in July 2025. In April 2026 the FDA granted accelerated approval to Otarmeni (lunsotogene parvec), a gene therapy for children and adults with severe to profound hearing loss caused by changes in both copies of the OTOF gene, and in August 2026 it approved Pasatru (garetosmab) for adults with fibrodysplasia ossificans progressiva. With Sanofi, Regeneron also developed Dupixent, which is approved for eosinophilic esophagitis and bullous pemphigoid.
18diseases
Tarrytown, United States
Sobi (Swedish Orphan Biovitrum)SpecialistSOBI
Sobi is a Swedish specialty biopharmaceutical company dedicated to rare diseases across hematology, immunology, and specialty care. Key products include Doptelet (avatrombopag) for immune thrombocytopenia, Vonjo (pacritinib) for myelofibrosis with low platelet counts, Gamifant (emapalumab) for primary hemophagocytic lymphohistiocytosis and, since June 2025, macrophage activation syndrome in Still's disease, and Kineret (anakinra) for autoinflammatory diseases such as NOMID, a severe form of cryopyrin-associated periodic syndromes. Outside North America, Sobi also sells the hemophilia medicines Elocta (efmoroctocog alfa), Alprolix (eftrenonacog alfa) and Altuvoct (efanesoctocog alfa), which Sanofi sells in the U.S. The company has a presence in about 30 countries and provides its medicines in many more.
18diseases
Stockholm, Sweden
IpsenDiversifiedIPSEY
Ipsen is a French biopharmaceutical company focused on oncology, rare diseases, and neuroscience. Key rare disease products include Somatuline Depot (lanreotide) for acromegaly, Sohonos (palovarotene) for fibrodysplasia ossificans progressiva, Bylvay (odevixibat) for progressive familial intrahepatic cholestasis and Alagille syndrome pruritus, and Iqirvo (elafibranor) for primary biliary cholangitis (approved 2024). The company also has elafibranor in Phase 2 for primary sclerosing cholangitis.
17diseases
Paris, France
PTC TherapeuticsSpecialistPTCT
PTC Therapeutics develops medicines for rare metabolic and neurological diseases.
Approved products include Sephience (sepiapterin) for phenylketonuria (FDA approved July 2025) and Kebilidi (eladocagene exuparvovec), a gene therapy for AADC deficiency (FDA approved November 2024). PTC also receives royalties from Roche on Evrysdi (risdiplam) for spinal muscular atrophy.
The company's most-watched program is votoplam (PTC518), an oral pill for Huntington's disease that lowers the toxic huntingtin protein responsible for the condition. Novartis took over development, manufacturing, and commercialization in 2024.
On April 28, 2026, PTC reported positive 24-month results from the PIVOT-HD long-term extension. In participants at stage 2 of the disease, the 10 mg dose showed 52% slowing of disease progression on the standard Huntington's clinical scale (cUHDRS) compared with a matched natural history group, and the 5 mg dose showed 28% slowing. PTC said there were no treatment-related spikes in a marker of nerve damage (NfL), and average NfL in stage 2 participants was below where it started. Novartis has now started the global Phase 3 INVEST-HD trial in roughly 770 patients with early-stage disease.
Vatiquinone for Friedreich ataxia remains in development after receiving an FDA Complete Response Letter that requested more efficacy data.
On September 21, 2026, PTC completed its acquisition of ST-920 (isaralgagene civaparvovec), a one-time AAV gene therapy for Fabry disease, from Sangamo's bankruptcy auction. The rolling BLA for accelerated approval is expected to be completed in Q4 2026.
17diseases
Warren, United States
Ultragenyx PharmaceuticalSpecialistRARE
Ultragenyx Pharmaceutical is a biopharmaceutical company dedicated to treating rare and ultra-rare genetic diseases. The company's portfolio includes 6 approved therapies: Crysvita (burosumab) for X-linked hypophosphatemia, Mepsevii (vestronidase alfa) for MPS VII, Dojolvi (triheptanoin) for long-chain fatty acid oxidation disorders, Evkeeza (evinacumab), which Regeneron markets in the US and Ultragenyx sells outside the US under license, for homozygous familial hypercholesterolemia, Genglycos (pariglasgene brecaparvovec-opnr), which received FDA accelerated approval in August 2026 for glycogen storage disease type Ia, and Fayuvi (rebisufligene etisparvovec-hopf), formerly UX111, which received full FDA approval on September 17, 2026 as the first-ever treatment for Sanfilippo syndrome type A (MPS IIIA). Genglycos and Fayuvi are the company's first 2 gene therapies to reach the market. Its pipeline includes DTX301 gene therapy for ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, which met the first of its 2 main Phase 3 goals in March 2026, and UX701 gene therapy for Wilson disease, now in the dose-finding stage of a combined Phase 1/2/3 trial. In 2 other programs the Phase 3 trials missed their main goals, setrusumab for osteogenesis imperfecta in December 2025 and apazunersen (GTX-102) for Angelman syndrome on September 2, 2026, and Ultragenyx says it is reviewing next steps for both.
17diseases
Novato, United States
CSL BehringDiversifiedCSL
CSL Behring is a global leader in plasma-derived and recombinant therapies for rare diseases including bleeding disorders, immune deficiencies, and hereditary angioedema. Key products include Hemgenix (etranacogene dezaparvovec), the first gene therapy for hemophilia B, Idelvion (Factor IX) for hemophilia B, Haegarda (C1 esterase inhibitor) for hereditary angioedema, and Hizentra (subcutaneous immunoglobulin) for primary immunodeficiency and CIDP. CSL Behring is part of CSL Limited, which also acquired Vifor Pharma in 2022 to expand into nephrology and iron deficiency.
16diseases
Melbourne, Australia
BioMarin PharmaceuticalSpecialistBMRN
BioMarin Pharmaceutical is one of the foundational rare disease companies of the modern biotech era. Founded in 1997 and headquartered in San Rafael, California, BioMarin trades on the NASDAQ under the ticker BMRN. The company built its early business by manufacturing recombinant enzymes for patients with rare lysosomal storage disorders, conditions where a missing enzyme allows toxic substances to accumulate inside cells. From that base, BioMarin has expanded into gene therapy, oral small molecules, and now a substantially larger portfolio following the acquisition of Amicus Therapeutics in April 2026.
The marketed portfolio spans several rare disease categories. Voxzogo (vosoritide) is approved for children with achondroplasia, the most common form of disproportionate short stature, and works by targeting the underlying signaling pathway disrupted by the FGFR3 mutation that causes the disease. Brineura (cerliponase alfa) treats CLN2 disease, a rare and severe pediatric form of Batten disease, by replacing the missing TPP1 enzyme directly into the brain. For phenylketonuria (PKU), an inherited disorder where patients cannot process the amino acid phenylalanine, BioMarin sells Palynziq (pegvaliase) and Kuvan (sapropterin), each suited to a different part of the patient population. The company also markets enzyme replacement therapies for several mucopolysaccharidoses, the lysosomal storage diseases known collectively as MPS. Those drugs are Naglazyme for MPS VI, Vimizim for MPS IVA (also called Morquio A), and Aldurazyme for MPS I. Roctavian (valoctocogene roxaparvovec), a gene therapy approved in 2023 for severe hemophilia A, was voluntarily withdrawn from the market in February 2026 after BioMarin was unable to find a buyer for it; the company said the decision was unrelated to the therapy's efficacy or safety and that it would continue to support patients already treated.
On April 27, 2026, BioMarin completed its $4.8 billion all-cash acquisition of Amicus Therapeutics at $14.50 per share. The deal added two important assets to BioMarin's portfolio. Galafold (migalastat) is the first oral treatment for Fabry disease, with U.S. exclusivity running through 2037. Pombiliti + Opfolda (cipaglucosidase alfa + miglustat) is a two-component therapy for late-onset Pompe disease. The acquisition also brought BioMarin U.S. rights to DMX-200, an investigational small molecule in Phase 3 development for focal segmental glomerulosclerosis (FSGS), a rare and progressive kidney disease.
The strategic case for the Amicus deal is straightforward. Both companies focus on lysosomal storage disorders, and BioMarin's larger commercial infrastructure and global manufacturing footprint can deliver Galafold, Pombiliti, and Opfolda to more patients in more countries than Amicus could alone. Combined, the company now has a deeper rare disease portfolio and a clearer growth trajectory while keeping its identity grounded in the same patient communities it has served since its founding.
On September 1, 2026, BioMarin closed a second, smaller acquisition, buying the Dutch biotech Alesta Therapeutics for $275 million upfront plus up to $215 million in later payments tied to development and regulatory milestones. The deal was essentially for one asset. ALE1 is an oral small molecule in Phase 1/2a testing for hypophosphatasia (HPP), a rare inherited bone disease caused by mutations in the ALPL gene that can lead to frequent fractures, early tooth loss, and, in adults, muscle weakness, fatigue, and pain. The treatments available for HPP today are injected, so an oral option would be a meaningful change in how the disease is managed. ALE1 now sits in BioMarin's Skeletal Conditions Business Unit alongside Voxzogo. Alesta spun out its other programs into a separate company before the deal closed, and no Alesta employees moved to BioMarin.
15diseases
San Rafael, United States
Janssen / Johnson & JohnsonDiversifiedJNJ
Janssen, the pharmaceutical division of Johnson & Johnson, works across several therapeutic areas, including rare neurological, blood and immune disorders. In April 2025, the FDA approved Imaavy (nipocalimab), an FcRn blocker, for generalized myasthenia gravis in patients 12 and older who are anti-AChR or anti-MuSK antibody positive. In August 2026, Imaavy became the first FDA-approved treatment for warm autoimmune hemolytic anemia, for patients 12 and older who are taking or have taken corticosteroids. Nipocalimab is also in trials for CIDP, Sjögren's disease and pregnancies at risk of hemolytic disease of the fetus and newborn.
15diseases
New Brunswick, United States
Chiesi FarmaceuticiDiversified
Chiesi is an international biopharmaceutical company with a broad rare disease portfolio. Key products include Lamzede (velmanase alfa) for alfa-mannosidosis, Elfabrio (pegunigalsidase alfa) for Fabry disease, FILSUVEZ for epidermolysis bullosa, JUXTAPID/LOJUXTA (lomitapide) for homozygous familial hypercholesterolemia, Mycapssa (octreotide) for acromegaly, and FERRIPROX (deferiprone) for transfusional iron overload in sickle cell disease and thalassemia. The company also has programs in cystic fibrosis and pulmonary fibrosis.
13diseases
Parma, Italy
Vertex PharmaceuticalsSpecialistVRTX
Vertex Pharmaceuticals is the company that took cystic fibrosis from a disease that often killed patients before they reached adulthood and turned it into a chronic illness most patients will live decades longer with. Founded in 1989 and headquartered in Boston, Vertex trades on the NASDAQ under the ticker VRTX. The company spent more than 20 years on the underlying CFTR-modulator chemistry before its first approved cystic fibrosis drug, and the resulting franchise is the foundation of everything else it does today.
The current cornerstone CF drug is Trikafta, a triple combination of CFTR modulators that addresses the most common CFTR mutation, which is present in roughly 90% of CF patients. Trikafta has dramatically improved lung function, weight gain, and survival outlook for the patients eligible for it. In December 2024, the FDA approved Alyftrek, the next-generation CF therapy combining vanzacaftor, tezacaftor, and deutivacaftor in a once-daily pill that further extends the patient population covered. Cystic fibrosis is caused by inherited mutations in the CFTR chloride channel, which lead to thick mucus buildup in the lungs and digestive tract. The Vertex modulator program has been one of the more transformative arcs in modern medicine.
Beyond CF, Vertex co-developed Casgevy (exagamglogene autotemcel) with CRISPR Therapeutics, which became the first CRISPR-based gene-editing therapy approved by the FDA. Casgevy treats sickle cell disease and transfusion-dependent beta thalassemia by editing patient cells outside the body to reactivate fetal hemoglobin, which restores healthy red blood cell function. On July 1, 2026 the FDA extended Casgevy to people aged 2 and older. It had been approved from age 12. Casgevy represented a watershed moment for the field of gene editing as a clinical reality.
In 2025, Vertex broadened beyond rare genetics with the FDA approval of Journavx (suzetrigine) in January, the first novel non-opioid acute pain medicine in over two decades. In 2024 Vertex also acquired Alpine Immune Sciences for $4.9 billion, gaining povetacicept, a dual BAFF/APRIL antagonist that met its primary endpoint at a planned Week 36 interim analysis of the Phase 3 RAINIER trial for IgA nephropathy, with a 49.8% placebo-adjusted reduction in urine protein-to-creatinine ratio. Vertex completed its rolling BLA submission for povetacicept in March 2026, and the FDA accepted it for accelerated approval review with a decision date of November 30, 2026. The pipeline also includes inaxaplin (VX-147) for APOL1-mediated kidney disease, which mostly affects people of African ancestry, in the Phase 2/3 AMPLITUDE trial, and zimislecel, a stem-cell-derived islet therapy for type 1 diabetes in a Phase 1/2/3 study. Vertex said in August 2026 it would give updated zimislecel timelines later in the year. On September 1, 2026, Vertex completed its approximately $10 billion acquisition of Crinetics Pharmaceuticals, adding the marketed oral acromegaly drug Palsonify (paltusotine) and moving Vertex into rare endocrine disease. The deal also brought in atumelnant, in Phase 3 for congenital adrenal hyperplasia.
13diseases
Boston, United States
argenxSpecialistARGX
argenx is a global immunology company focused on FcRn-blocking antibody therapies for rare autoimmune diseases. Vyvgart (efgartigimod alfa), given by IV infusion, was approved in December 2021 for adults with generalized myasthenia gravis who test positive for AChR antibodies. Vyvgart Hytrulo, given as an injection under the skin, was approved for the same group in June 2023 and for chronic inflammatory demyelinating polyneuropathy (CIDP) in June 2024, and a prefilled syringe for self-injection followed in April 2025. On May 8, 2026, the FDA expanded both labels to all adults with generalized myasthenia gravis, including people who test positive for MuSK or LRP4 antibodies and people who test negative for AChR, MuSK and LRP4 antibodies. In August 2026, argenx and Zai Lab reported that the Phase 3 ALKIVIA trial met its main goal in autoimmune myositis. Registrational trials continue in immune thrombocytopenia, Sjögren's disease and Graves' disease, and empasiprubart is in registrational trials for multifocal motor neuropathy and CIDP. argenx stopped its pemphigus program after the Phase 3 ADDRESS trial missed its main goal in December 2023.
12diseases
Zwijnaarde, Belgium
BiohavenSpecialistBHVN
Biohaven traces its origin to one of the more unusual deals in recent biotech history. Founder and CEO Dr. Vlad Coric, a Yale psychiatrist who spent years working on neuropsychiatric and neurodegenerative drugs, licensed the migraine compound rimegepant from Bristol-Myers Squibb in 2016 and built it, as Nurtec ODT, into one of the fastest-growing branded migraine pills in the United States. In 2022, Pfizer paid $11.6 billion to acquire the original Biohaven and keep Nurtec for its migraine franchise. Vlad and his team kept everything else, spinning the remaining pipeline out as a new public company in October 2022. The new Biohaven now trades on the NYSE under the ticker BHVN and is based in New Haven, Connecticut.
The largest part of today's pipeline is a new class of drugs in immunology, designed to clear disease-driving proteins from the body. The platforms are called MoDE and TRAP, both licensed from Yale University in 2021, and the simplest way to describe what they do is that they grab onto specific antibodies or proteins floating in the blood, the kind that drive autoimmune disease, and pull them into the body's natural cleanup pathway to be destroyed. The two most advanced degrader programs moved into late-stage testing in 2026: BHV-1300 began a Phase 3 pivotal trial in Graves' disease, dosing its first patient in June 2026 after early studies showed it could lower the disease-driving thyroid antibody by more than 80%, and BHV-1400 is expected to begin its pivotal trial in IgA nephropathy in the second half of 2026. On October 8, 2026, Biohaven licensed BHV-1300 and 2 follow-on IgG degraders to Ono Pharmaceutical for Japan, South Korea, Taiwan and Southeast Asia, keeping all rights in the US, Europe and China. Earlier-stage degrader candidates target IgG4-mediated disease (BHV-1450), peripartum cardiomyopathy (BHV-1600), membranous nephropathy (BHV-1420), and other pathogenic proteins, with nearly 200 people dosed across the degrader platform to date. The platform's provenance also received a legal stamp in 2026: a federal jury found that Avilar Therapeutics and RA Capital had willfully misappropriated the Yale trade secret behind the MODA degradation technology, and on August 25, 2026 the court entered judgment awarding Biohaven and Yale a combined $4 million.
Beyond immunology, Biohaven is also running late-stage trials in two brain-related areas. Opakalim (BHV-7000) is in Phase 2/3 development for focal epilepsy and works by stabilizing electrical activity in the brain that drives seizures; RISE 3, one of its 2 pivotal studies, finished enrolling in June 2026, and Biohaven expects its topline results in the second half of 2026. BioPharma Dive reported on September 10, 2026 that the FDA placed the program on a partial clinical hold on September 4, and Fierce Biotech reported the same hold. The hold stops new patients from enrolling, including in RISE 2, while Biohaven provides more animal data on a substance the body makes when it breaks down the drug. People already in the trials keep taking it. On August 26, 2026, Biohaven granted SK Biopharmaceuticals an exclusive worldwide license to its Kv7 ion channel platform, including opakalim. Biohaven will receive $400 million in near-term cash plus development and regulatory milestones and royalties, and SK Biopharmaceuticals will take over Kv7 program costs and commercialization; the agreement is subject to antitrust clearance before it closes. Separately, BHV-8000 is in Phase 2/3 development for early Parkinson's disease and aims to dampen brain inflammation thought to contribute to disease progression. In oncology, two cancer drugs called antibody-drug conjugates (BHV-1510 and BHV-1530) are in Phase 1 trials for solid tumors, both now being tested in combination with Regeneron's Libtayo under clinical supply agreements, with updated BHV-1530 data expected at the ESMO cancer congress in October 2026. On September 28, 2026, Biohaven said BHV-1530 data were also chosen for an oral presentation at the EORTC-NCI-AACR Symposium.
The company has had recent setbacks worth noting. Troriluzole, a glutamate modulator that Biohaven had been developing for spinocerebellar ataxia, received an FDA Complete Response Letter in November 2025. Biohaven said it was formally requesting a meeting with the FDA. Neither Biohaven nor the FDA has said publicly whether that meeting took place or what came of it. It had already withdrawn its European application in March 2025. Taldefgrobep alfa, a myostatin inhibitor, missed its Phase 3 endpoint in spinal muscular atrophy and is now being studied in obesity, where it is designed to promote weight loss while preserving lean muscle; the Phase 2 obesity study finished enrolling in early 2026 and topline data is expected in the second half of 2026.
12diseases
New Haven, United States
CRISPR Therapeutics AGSpecialistCRSP
CRISPR Therapeutics develops CRISPR/Cas9-based gene-editing therapies for serious diseases. Casgevy (exagamglogene autotemcel), co-developed with Vertex Pharmaceuticals, was the first CRISPR-based therapy approved by the FDA, for sickle cell disease with recurrent vaso-occlusive crises (December 2023) and transfusion-dependent beta thalassemia (January 2024). In July 2026 the FDA widened both approvals to patients aged 2 and older. The pipeline includes zugocabtagene geleucel (zugo-cel, formerly CTX112), a donor-derived CAR-T therapy in trials for B-cell cancers and for autoimmune diseases such as lupus, immune thrombocytopenia and warm autoimmune hemolytic anemia; CTX460 for alpha-1 antitrypsin deficiency, in a Phase 1 trial; CTX310, which targets ANGPTL3 to lower blood fats, in Phase 1b; and CTX321, a lipoprotein(a) program not yet in human trials.
12diseases
Zug, Switzerland
Boehringer IngelheimDiversified
Boehringer Ingelheim, founded in 1885 and based in Ingelheim, Germany, is one of the world's largest drugmakers. Its rare disease medicines center on lung scarring. Ofev (nintedanib) is approved for idiopathic pulmonary fibrosis, systemic sclerosis-associated interstitial lung disease and other progressive fibrosing lung diseases. Jascayd (nerandomilast) was approved on October 7, 2025 for idiopathic pulmonary fibrosis and on December 19, 2025 for progressive pulmonary fibrosis. Its current trials include a Phase 3 study of nerandomilast in systemic sclerosis and a Phase 3 study of BI 764198 in focal segmental glomerulosclerosis.
11diseases
Ingelheim, Germany
Otsuka PharmaceuticalDiversified4578
Otsuka Pharmaceutical develops treatments for rare genetic and renal diseases. Key products include JYNARQUE (tolvaptan), the first treatment to slow kidney function decline in autosomal dominant polycystic kidney disease (approved 2018), and Voyxact (sibeprenlimab), given accelerated approval in November 2025 to lower protein in the urine of adults with primary IgA nephropathy at risk of getting worse. The company also has repinatrabit in Phase 3 for phenylketonuria (the trial started in October 2025).
11diseases
Tokyo, Japan
Apellis PharmaceuticalsSpecialist
Apellis Pharmaceuticals develops targeted C3 complement inhibitors for hematologic and renal rare diseases. Empaveli (pegcetacoplan) is FDA-approved for adults with paroxysmal nocturnal hemoglobinuria (2021) and for people 12 and older with C3 glomerulopathy or primary immune-complex membranoproliferative glomerulonephritis (July 2025). Syfovre, an eye injection of pegcetacoplan, is approved for geographic atrophy caused by age-related macular degeneration (February 2023). On May 14, 2026, Biogen completed its acquisition of Apellis for $41 per share in cash plus a contingent value right worth up to $4 per share, tied to Syfovre sales; Apellis is now a wholly owned subsidiary of Biogen.
10diseases
Waltham, United States
Daiichi SankyoDiversified4568
Daiichi Sankyo is a Japanese pharmaceutical company with roots dating back to 1899 (formed through the 2005 merger of Daiichi Pharmaceutical and Sankyo). The company is a global leader in antibody-drug conjugates for oncology, with programs touching rare cancers such as adrenocortical carcinoma and hereditary diffuse gastric cancer.
10diseases
Tokyo, Japan
ExelixisDiversifiedEXEL
Exelixis is an oncology-focused pharmaceutical company best known for cabozantinib (Cabometyx/Cometriq), a multikinase inhibitor FDA-approved for medullary thyroid cancer, renal cell carcinoma, and hepatocellular carcinoma. The company has a growing pipeline of next-generation tyrosine kinase inhibitors and antibody-drug conjugates targeting solid tumors.
10diseases
Alameda, United States
Acceleron PharmaSpecialist
Acceleron Pharma was a Boston biotech that bet for nearly two decades that a niche corner of biology called activin receptor signaling could produce drugs for diseases nobody had cracked. The company was founded in 2003 and went public on the NASDAQ in 2013, but the bigger story is what happened in 2021. Merck acquired Acceleron for $11.5 billion specifically to gain rights to a drug called sotatercept, which was in late-stage development for pulmonary arterial hypertension (PAH). The acquisition closed in November 2021, and Acceleron now operates as part of Merck.
Sotatercept, marketed by Merck as Winrevair, is the drug that justified the acquisition. The FDA approved Winrevair in March 2024 for adults with pulmonary arterial hypertension, a rare and progressive disease where the arteries between the heart and lungs become narrow and stiff, forcing the right side of the heart to work much harder than it should. Winrevair was the first new mechanism approved for PAH in over a decade, and it works by rebalancing growth and inflammatory signals in pulmonary artery walls so they can remodel back toward normal. In the Phase 3 STELLAR trial, patients on Winrevair plus standard background therapy walked significantly farther in 6 minutes after 24 weeks compared to placebo, and saw lower rates of clinical worsening events such as PAH-related hospitalization or death.
Acceleron also co-developed luspatercept with Celgene, which is now part of Bristol Myers Squibb and markets the drug as Reblozyl. Reblozyl is approved for anemia in patients with transfusion-dependent beta thalassemia and in lower-risk myelodysplastic syndromes (MDS). Beta thalassemia is an inherited blood disorder where patients cannot make enough functional hemoglobin and often require lifelong transfusions, and Reblozyl helps reduce how often those patients need transfusions. In MDS, the drug similarly addresses the chronic anemia that defines the lower-risk forms of the disease.
The legacy of the company is now spread across two of the largest pharmaceutical organizations in the world, but the underlying scientific bet is intact. Block or rebalance specific signaling pathways in tissues where current therapies only manage symptoms, and patients can get a meaningful disease-modifying benefit.
9diseases
Boston, United States
OctapharmaSpecialist
Octapharma is a family-owned Swiss plasma-medicine specialist headquartered in Lachen and founded in 1983, and it describes itself as the largest privately owned and independent plasma fractionator in the world. Its business is turning donated human plasma into therapies for rare bleeding and immune disorders, an old-fashioned model it has run at global scale for 4 decades, alongside recombinant products grown from human cell lines.
For bleeding-disorder patients, its mainstays are Nuwiq, a recombinant factor VIII for hemophilia A, and wilate, a von Willebrand factor/factor VIII concentrate whose FDA approval expanded in July 2026 to cover routine prophylaxis in children under 6 with von Willebrand disease. In immunology, its immunoglobulin therapies include Panzyga, approved for adults with chronic inflammatory demyelinating polyneuropathy (CIDP). Its current trials include a Phase 3 study of Panzyga in children with CIDP and a Phase 3 study of a plasma-derived C1 esterase inhibitor for hereditary angioedema attacks.
Octapharma rarely makes biotech headlines because it has no stock ticker and no splashy platform story. What it has is durability: plasma collection centers, manufacturing depth, and a portfolio of unglamorous products that thousands of rare disease patients depend on every week.
9diseases
Lachen, Switzerland
Orchard TherapeuticsSpecialist
Orchard Therapeutics, acquired by Kyowa Kirin in January 2024, develops hematopoietic stem cell gene therapies for rare genetic diseases. Lenmeldy (atidarsagene autotemcel) received FDA approval in March 2024 for early-onset metachromatic leukodystrophy. OTL-203 for MPS I Hurler syndrome is in the registrational HURCULES trial (NCT06149403), which compares it with donor stem cell transplant; Orchard said on July 7, 2025 that the last patient had been treated.
9diseases
London, United Kingdom
Blueprint MedicinesSpecialistBPMC
Blueprint Medicines is a precision therapy company focused on genomically defined cancers and blood disorders. Sanofi completed its $9.1 billion acquisition of Blueprint on July 18, 2025 (announced June 2025). The lead product is avapritinib (Ayvakit/Ayvakyt), approved for advanced systemic mastocytosis, indolent systemic mastocytosis (ISM, approved 2023), and PDGFRA D842V-mutant gastrointestinal stromal tumors. Blueprint also discovered pralsetinib (Gavreto) for RET-altered cancers and regained global commercialization rights from Roche in 2024. The pipeline includes elenestinib (BLU-263), a next-generation KIT D816V inhibitor in Phase 2/3 for indolent systemic mastocytosis.
8diseases
Cambridge, United States
Recordati Rare DiseasesDiversifiedREC
Recordati is an Italian pharmaceutical company with a dedicated rare disease division. Its US rare disease medicines include Enjaymo (sutimlimab) for cold agglutinin disease, bought from Sanofi in 2024 for $825 million upfront; Isturisa (osilodrostat) for Cushing's syndrome; Signifor LAR (pasireotide) for acromegaly and Cushing's disease; Sylvant (siltuximab) for multicentric Castleman disease; Panhematin (hemin) for attacks of acute intermittent porphyria; Carbaglu (carglumic acid) for high ammonia from NAGS deficiency, propionic acidemia or methylmalonic acidemia; and Cystadane (betaine) for homocystinuria.
8diseases
Milan, Italy
Mirum PharmaceuticalsSpecialistMIRM
Mirum Pharmaceuticals is a Foster City, California company focused on rare liver diseases, and it has quietly assembled one of the more productive commercial portfolios in the space. Its flagship, Livmarli (maralixibat), blocks bile acid recycling in the gut and is approved for cholestatic itching in two devastating pediatric liver conditions: Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC). For children whose relentless itch once led to liver transplant evaluations, an oral daily medicine changed the calculus.
The portfolio extends further: Cholbam (cholic acid) treats bile acid synthesis disorders, and Ctexli (chenodiol) became the first FDA-approved treatment specifically for cerebrotendinous xanthomatosis (CTX) in adults, a genetic disease long treated only off-label. On September 25, 2026 the FDA approved Atebrioz (zilurgisertib), licensed from Incyte, for fibrodysplasia ossificans progressiva (FOP) in people 12 and older. In the pipeline, volixibat applies the same bile-acid mechanism to adult cholestatic diseases. Its Phase 2b VISTAS study in primary sclerosing cholangitis met its primary endpoint on itch in May 2026, and Mirum is targeting an FDA filing in the first half of 2027. The VANTAGE study in primary biliary cholangitis has completed enrollment, with results expected in the first quarter of 2027. Brelovitug, an antibody for chronic hepatitis delta, met its primary endpoint in the Phase 3 AZURE-1 study on September 28, 2026, and MRM-3379 is in a Phase 2 study in Fragile X syndrome.
Mirum's pattern is consistent: take unglamorous, well-understood bile-acid biology and turn it into approved medicines for diseases most companies overlook.
7diseases
Foster City, United States
Sangamo TherapeuticsSpecialistSGMO
Sangamo Therapeutics develops gene therapies using its zinc finger nuclease (ZFN) platform. On June 23, 2026, Sangamo filed for Chapter 11 bankruptcy protection (District of Delaware) and entered stalking-horse asset-purchase agreements. Following a court-supervised auction, Sangamo completed the sale of its platform technologies to Eli Lilly on September 4, 2026 for $50 million in cash, covering its AAV capsid engineering platform (including the STAC-BBB capsid), its zinc finger protein platform, its Modular Integrase genome editing platform, and its ST-506 prion disease program. Its Fabry disease program ST-920 (isaralgagene civaparvovec) was sold to PTC Therapeutics, which outbid stalking-horse bidder Astellas at the court-supervised auction and completed the acquisition on September 21, 2026 for $111 million in cash plus up to $100 million in FDA-approval milestones. PTC expects to complete the rolling BLA (accelerated approval pathway) in Q4 2026. Sangamo's common stock was suspended from Nasdaq on May 5, 2026 and now trades on the OTCID Basic Market under the symbol SGMOQ.
7diseases
Brisbane, United States
Horizon TherapeuticsSpecialist
Horizon Therapeutics is now part of Amgen, which completed its $27.8 billion purchase of the company on October 6, 2023. Its medicines for rare autoimmune and severe inflammatory diseases are now in Amgen's portfolio. They include Tepezza (teprotumumab) for thyroid eye disease, Krystexxa (pegloticase) for chronic gout that has not responded to standard treatment, Ravicti (glycerol phenylbutyrate) and Buphenyl (sodium phenylbutyrate) for urea cycle disorders, Actimmune (interferon gamma-1b) for chronic granulomatous disease, and Procysbi (cysteamine bitartrate) for nephropathic cystinosis. Uplizna (inebilizumab) is approved for neuromyelitis optica spectrum disorder, and since 2025 for IgG4-related disease and generalized myasthenia gravis.
6diseases
Dublin, Ireland
Travere TherapeuticsSpecialistTVTX
Travere Therapeutics is a San Diego biotech focused on rare kidney and metabolic diseases. The company was founded in 2011 as Retrophin and rebranded as Travere in November 2020. Travere trades on the NASDAQ under the ticker TVTX and built its current pipeline around a concrete question. What happens to patients with rare kidney diseases when their condition has no approved treatment?
That question came to a head with focal segmental glomerulosclerosis (FSGS), a rare kidney disease that scars the filtering units of the kidneys and leads many patients toward dialysis or transplant. Despite affecting tens of thousands of Americans, FSGS had never had an FDA-approved drug, and that changed on April 13, 2026, when the FDA granted Travere's drug Filspari (sparsentan) full approval for FSGS in adults and pediatric patients aged 8 and older who do not have nephrotic syndrome, making it the first and only approved medicine for the disease. The approval was based on the Phase 3 DUPLEX study, where 371 patients were randomized between sparsentan and irbesartan, a standard blood pressure drug used off-label in FSGS. Patients on sparsentan saw a 46% reduction in protein leakage from the kidneys at week 108, compared to 30% on irbesartan. The trial found no significant difference between the 2 drugs in how fast kidney function declined, and the FDA approved Filspari for FSGS to reduce protein leakage in people 8 and older who do not have nephrotic syndrome.
Filspari was already approved in IgA nephropathy, a different rare kidney disease where the immune system inappropriately attacks the kidneys. Filspari received full FDA approval for IgA nephropathy in September 2024 and is one of several new drugs that have recently changed the IgAN treatment landscape. Travere also markets THIOLA EC (tiopronin) for cystinuria, a rare disease that causes recurrent kidney stones starting in childhood.
The lead pipeline asset is pegtibatinase for classical homocystinuria, a rare metabolic disorder where the body cannot properly process the amino acid homocysteine. Pegtibatinase is in a pivotal Phase 3 trial called HARMONY and has FDA Breakthrough Therapy designation. Enrollment restarted in early 2026 after a pause to scale up manufacturing, and Travere expects topline data in the second half of 2027. Across the portfolio in 2025, Travere reported $410 million in net product sales, with Filspari generating $322 million of that in U.S. revenue.
6diseases
San Diego, United States
RegenxbioSpecialistRGNX
Regenxbio is a clinical-stage biotechnology company advancing gene therapies for rare and retinal diseases using its proprietary AAV gene therapy delivery platform. The company's pipeline includes therapies for mucopolysaccharidosis disorders, Duchenne muscular dystrophy, and inherited retinal diseases.
6diseases
Rockville, United States
ADARx PharmaceuticalsSpecialist
ADARx is a San Diego biotech building small interfering RNA (siRNA) medicines, drugs that silence a disease-driving gene at the messenger-RNA level, engineered for potency and unusually long-lasting effect. The company kept its pipeline wholly owned while moving three programs into the clinic, and in 2026 filed to go public on Nasdaq.
Its most advanced program is onvuzosiran (ADX-324) for hereditary angioedema, which silences prekallikrein production to prevent the swelling attacks that define the disease. Onvuzosiran carries FDA Fast Track and orphan drug designations and is enrolling the Phase 3 STOP-HAE trial, with topline data expected by the end of 2027. The pitch to patients is dosing measured in months, not days: a long-acting injection that could make prophylaxis nearly invisible in daily life.
The second act is agazisiran, which silences complement factor B, a master switch in the complement immune cascade. That one mechanism is being aimed at several complement-driven rare diseases at once, including IgA nephropathy, C3 glomerulopathy, paroxysmal nocturnal hemoglobinuria, and geographic atrophy, with initial data expected in 2027. A third program targets factor XI for stroke prevention.
5diseases
San Diego, United States
Agios PharmaceuticalsSpecialistAGIO
Agios is a Cambridge, Massachusetts biotech that reinvented itself around a single molecule. The company made its name in cancer metabolism, then sold its entire oncology business in 2021 to bet everything on rare genetic diseases of the red blood cell, with a pill called mitapivat at the center. Mitapivat activates pyruvate kinase, an enzyme red blood cells use to make energy; when the enzyme runs better, fragile red cells live longer and anemia improves.
That one mechanism has now produced two approved medicines. Pyrukynd (mitapivat) won FDA approval in 2022 for pyruvate kinase deficiency, and in December 2025 the same molecule was approved as Aqvesme for anemia in adults with alpha- or beta-thalassemia, reaching U.S. patients in early 2026. The company's biggest swing is sickle cell disease: in the Phase 3 RISE UP study, mitapivat met its hemoglobin-response endpoint but its reduction in pain crises did not reach statistical significance, so on May 12, 2026 Agios applied for accelerated approval based on the hemoglobin benefit. In July 2026 the FDA accepted the application with priority review for people 16 and older, and its decision is due November 1, 2026.
Agios decided not to advance tebapivat, a next-generation pyruvate kinase activator, after Phase 2 results in lower-risk myelodysplastic syndromes on May 29, 2026 and in sickle cell disease on July 21, 2026. Its earlier pipeline includes AG-181 for phenylketonuria, now in a Phase 1b trial in adults. For patients with rare anemias, Agios represents something unusual: a company betting that fixing red-cell energy metabolism can treat a whole family of diseases with one oral mechanism.
5diseases
Cambridge, United States
Amicus TherapeuticsSpecialist
Amicus Therapeutics is a Philadelphia-based biotech that spent two decades building a focused portfolio in lysosomal storage disorders, a family of rare genetic diseases where missing or defective enzymes allow toxic substances to accumulate inside cells. Founded in 2002, Amicus traded publicly on the NASDAQ under the ticker FOLD until April 27, 2026, when BioMarin Pharmaceutical completed its acquisition of the company for $14.50 per share in an all-cash deal valued at $4.8 billion. Amicus is now a wholly owned subsidiary of BioMarin.
The flagship product Amicus brought to the deal is Galafold (migalastat), which became the first oral treatment for Fabry disease when it was approved in 2018. Fabry disease is a rare X-linked genetic disorder where the body cannot properly break down a fatty substance called globotriaosylceramide, which then accumulates and damages the heart, kidneys, and nervous system. Before Galafold, the only available therapies were lifelong intravenous enzyme replacement infusions. Galafold is taken as a pill every other day and works only in patients with specific amenable GLA variants, which a genetic test must confirm before treatment. The drug generated $458 million in 2024 sales, and under a 2024 patent settlement Teva may sell a generic version in the U.S. starting January 30, 2037.
The other major asset is Pombiliti + Opfolda, a two-component therapy for late-onset Pompe disease. Pompe is a rare lysosomal storage disorder where the body cannot break down glycogen properly, which leads to progressive muscle weakness and respiratory decline. Pombiliti (cipaglucosidase alfa) is a recombinant enzyme replacement, and Opfolda (miglustat) is an oral stabilizer that helps the enzyme reach muscle tissue more effectively. The combination is approved for adults with late-onset Pompe disease who weigh at least 40 kg and are not improving on their current enzyme replacement therapy.
In addition to the marketed drugs, BioMarin gained U.S. rights to DMX-200 through the acquisition. DMX-200 is an investigational small molecule in Phase 3 development for focal segmental glomerulosclerosis (FSGS), a rare and progressive kidney disease. Under BioMarin, the legacy Amicus pipeline now sits alongside one of the largest rare disease infrastructures in the industry, with expanded global reach and manufacturing capacity for Galafold, Pombiliti, and Opfolda for the patients who need them.
5diseases
Philadelphia, United States
Denali TherapeuticsSpecialistDNLI
Denali Therapeutics develops therapies for neurodegenerative and lysosomal storage diseases using its Transport Vehicle (TV) platform to cross the blood-brain barrier. Avlayah (tividenofusp alfa) received FDA accelerated approval in March 2026 for neurologic manifestations of Hunter syndrome (MPS II). DNL952 (ETV:GAA) for Pompe disease is in Phase 1 development.
5diseases
South San Francisco, United States
Kyverna TherapeuticsSpecialistKYTX
Kyverna Therapeutics is an Emeryville, California cell therapy company chasing a first that would have sounded implausible a few years ago: an approved CAR-T therapy for a neurological autoimmune disease. Its lead therapy, miv-cel (KYV-101), engineers a patient's own T cells to deplete the CD19 B cells driving autoimmune attack, delivered as a one-time infusion with a design tuned for better tolerability in fragile neurology patients.
Stiff person syndrome is the beachhead. In December 2025 Kyverna announced positive topline data from KYSA-8, a registrational Phase 2 trial in 26 adults with the disease, and the full primary analysis presented at the American Academy of Neurology meeting in April 2026 showed statistically significant, durable benefit across all endpoints. The company is completing a rolling BLA submission in late 2026; if approved, miv-cel would become the first therapy ever specifically approved for stiff person syndrome.
Behind it, a Phase 3 trial in generalized myasthenia gravis is enrolling through 2027, backed by Phase 2 data showing deep responses sustained through 52 weeks, its multiple sclerosis program holds an FDA RMAT designation for non-active secondary progressive MS, and earlier work spans systemic sclerosis, myositis and lupus nephritis. For patients whose diseases are managed today with indefinite immunosuppression, Kyverna's one-time-reset premise is the thing to watch.
5diseases
Emeryville, United States
Sarepta TherapeuticsSpecialistSRPT
Sarepta Therapeutics is a Cambridge, Massachusetts biotech that has spent most of the last decade trying to deliver gene therapy to patients with Duchenne muscular dystrophy. The company was originally founded in 1980 and trades on the NASDAQ under the ticker SRPT. Today its identity is built around the modern Sarepta of the 2010s onward, a company that has bet repeatedly that genetic medicine for neuromuscular diseases is worth pursuing even when the path through the FDA is hard.
The flagship product is Elevidys (delandistrogene moxeparvovec), the first gene therapy approved for Duchenne muscular dystrophy. Duchenne is a rare, progressive genetic disease that primarily affects boys, caused by mutations on the X chromosome. Patients are missing functional dystrophin, a protein their muscles need to repair themselves, so muscle tissue is gradually replaced by scar and fat over time. Most patients lose the ability to walk before adolescence and face premature death from cardiac and respiratory complications. Elevidys delivers a shortened working version of the dystrophin gene to muscle cells using a viral vector called AAV. The drug received FDA accelerated approval in 2023 for ambulatory boys aged 4 to 5, and the indication was expanded in 2024.
The Elevidys story has had a difficult more recent arc. In 2025, two non-ambulatory pediatric patients died from acute liver failure following Elevidys treatment. The FDA responded by approving a Boxed Warning on the drug's label and revising the approved indication to limit use to ambulatory patients aged 4 and older. The FDA also required Sarepta to run an observational study of about 200 patients that checks liver function for at least 12 months after the infusion. For boys who can no longer walk, Sarepta is testing an added immune-suppressing medicine called sirolimus in Cohort 8 of its ENDEAVOR study, with full enrollment expected by the end of 2026. The events have made Elevidys a difficult and personal decision for many families weighing risk against the natural course of the disease, and Sarepta has been in active dialogue with the FDA and the DMD patient community since.
Sarepta also markets three earlier antisense oligonucleotide therapies for DMD that work by skipping over specific mutated exons of the dystrophin gene so a partially functional protein can still be produced. These are Exondys 51, Vyondys 53, and Amondys 45, each designed for a different DMD mutation type. In July 2025 Sarepta paused most of its limb-girdle muscular dystrophy gene therapies to cut costs, keeping SRP-9003 for LGMD type 2E/R4. Its pipeline now centers on siRNA medicines for facioscapulohumeral dystrophy, myotonic dystrophy type 1 and Huntington disease, with dosing underway in a first-in-human Huntington study.
5diseases
Cambridge, United States
Cabaletta BioSpecialistCABA
Cabaletta Bio is a Philadelphia cell therapy company applying a borrowed idea to a new problem: the CD19 CAR-T approach that transformed blood cancers, redirected at autoimmune disease. Its lead therapy, rese-cel (resecabtagene autoleucel), is a one-time infusion of a patient's own engineered T cells designed to deplete the B cells driving autoimmune attack, with the goal of resetting the immune system rather than suppressing it indefinitely.
The RESET clinical program spans several of the most stubborn autoimmune diseases: myositis (including dermatomyositis), systemic sclerosis, lupus, generalized myasthenia gravis, and pemphigus vulgaris. Myositis leads the way. After FDA alignment on registrational cohorts and a Regenerative Medicine Advanced Therapy designation, Cabaletta plans a rese-cel BLA submission in 2027, which would put it among the first companies to bring CAR-T to an autoimmune disease.
Data presented through 2026 covered more than 50 treated patients across myositis, lupus, and systemic sclerosis, including the first juvenile dermatomyositis patient and early experience giving rese-cel without preconditioning chemotherapy, a step toward making cell therapy gentler and more practical outside academic centers.
5diseases
Philadelphia, United States
Intellia TherapeuticsSpecialistNTLA
Intellia Therapeutics is a Cambridge, Massachusetts biotech that bet on a deceptively simple idea: what if the body could be edited once, and the disease could be fixed permanently? Founded in 2014 and publicly traded on the NASDAQ under the ticker NTLA, Intellia develops in vivo CRISPR gene-editing therapies, designed as one-time IV infusions that travel to a target organ (typically the liver) and edit a specific gene directly inside the body. Most rare disease therapies have to be taken regularly for life, but a gene-edited treatment, in theory, can be administered once and continue to work indefinitely.
The company's biggest moment to date came on April 27, 2026, when Intellia reported positive Phase 3 results from the HAELO trial of lonvoguran ziclumeran (lonvo-z, formerly NTLA-2002) for hereditary angioedema (HAE), a rare genetic disorder where patients suffer unpredictable swelling attacks that can close the airway. Lonvo-z works by editing the KLKB1 gene in the liver to lower production of kallikrein and bradykinin, the proteins responsible for triggering HAE attacks. A single dose of lonvo-z reduced HAE attacks by 87% versus placebo over the 6-month evaluation period, and 62% of treated patients were both attack-free and therapy-free during that window compared to 11% of placebo patients. The trial met its primary endpoint and all key secondary endpoints, and was the first Phase 3 readout for any in vivo gene-editing therapy in any disease. Intellia completed its BLA submission, and on September 8, 2026, the FDA accepted the application and granted it Priority Review with a target action date of March 10, 2027. The FDA has also indicated it does not currently plan to hold an advisory committee meeting to discuss the application. If approved, lonvo-z would be the first in vivo CRISPR-based therapy approved anywhere in the world.
The company's other late-stage program has had a much more difficult arc. Nexiguran ziclumeran (nex-z, formerly NTLA-2001) is a one-time CRISPR therapy that edits the TTR gene in the liver to treat ATTR amyloidosis, a rare disease where misfolded TTR protein accumulates in the heart and nerves. Nex-z is being studied in MAGNITUDE for the cardiomyopathy form of the disease and MAGNITUDE-2 for the polyneuropathy form. In late 2025, the FDA placed both trials on clinical hold after a Grade 4 liver adverse event in the cardiomyopathy study led to a participant's death on November 5, 2025. The FDA lifted the hold on MAGNITUDE-2 on January 27, 2026, with enhanced liver monitoring, and lifted the hold on MAGNITUDE for cardiomyopathy on March 2, 2026.
Earlier programs in Intellia's pipeline include in vivo CRISPR approaches to hemophilia B and alpha-1 antitrypsin deficiency, alongside ex vivo edited cell therapies for autoimmune disease. The thesis remains as it was at founding. If a single gene change drives a disease, edit it once at the source and free the patient from a lifetime of repeated treatment.
5diseases
Cambridge, United States
Celldex TherapeuticsDiversifiedCLDX
Celldex Therapeutics is a biopharmaceutical company developing therapeutic antibodies for patients with severe inflammatory, allergic, autoimmune, and other rare diseases. The company's lead program barzolvolimab (CDX-0159) is a monoclonal antibody for treating chronic urticarias, prurigo nodularis, eosinophilic esophagitis, and atopic dermatitis.
On September 22, 2026, Celldex reported that both Phase 3 EMBARQ-CSU trials in chronic spontaneous urticaria met their primary endpoint (change in UAS7 at week 12) and all key secondary endpoints, with 42–46% of treated patients achieving complete response versus 9–13% on placebo. A BLA submission is planned for 2027.
5diseases
Hampton, United States
Disc MedicineSpecialist
Disc Medicine is a hematology company developing disease-modifying treatments for erythropoietic porphyrias and other rare hematologic disorders. The company's lead candidate bitopertin (a GlyT1 inhibitor for erythropoietic protoporphyria) received a Complete Response Letter from the FDA in February 2026. Disc Medicine also develops DISC-0974 for myelofibrosis-associated anemia and DISC-3405, an anti-TMPRSS6 monoclonal antibody in Phase 1b for sickle cell disease.
5diseases
Watertown, United States
ItalfarmacoDiversified
Italfarmaco is a private, family-owned pharmaceutical company founded in Milan in 1938 and still controlled by the De Santis family. It is larger than most people in the rare disease world realize: more than 3,800 employees, operations in over 90 countries, six manufacturing plants across Italy, Spain, Chile, and Brazil, and consolidated sales above EUR 1.1 billion in 2024, most of it from established medicines in women's health, cardiology, neurology, and hospital products. Francesco Di Marco, formerly of Boehringer Ingelheim and Amgen, became CEO in January 2026. In the United States the company operates through ITF Therapeutics, a rare disease affiliate set up in January 2024 in Concord, Massachusetts.
What put Italfarmaco on the map for patients is Duvyzat (givinostat), approved by the FDA on March 21, 2024 for Duchenne muscular dystrophy in patients 6 and older. Givinostat was discovered in Italfarmaco's own labs in collaboration with the Italian Telethon foundation and Duchenne Parent Project Italy, and it differs from most Duchenne drugs in one important way: it does not depend on which dystrophin mutation a boy has. It works by blocking enzymes called histone deacetylases (HDACs), which become overactive in Duchenne muscle and drive the inflammation, scarring, and fat replacement that follow the loss of dystrophin. In the Phase 3 EPIDYS trial, boys taking givinostat with steroids declined more slowly on a four-stair climb test over 18 months than boys on placebo, and MRI showed less muscle replaced by fat. Long-term follow-up presented in 2026 from 225 patients in the open-label extension found a median age at loss of ambulation of 17.3 years, compared with roughly 11 to 13 years in natural history studies. The main side effects to watch are low platelet counts, diarrhea, and raised triglycerides, so regular blood tests are part of treatment. Duvyzat is also approved in the United Kingdom (December 2024) and, conditionally for ambulant patients, in the European Union (June 2025); Health Canada granted priority review in June 2026, and JCR Pharmaceuticals licensed Japanese rights in December 2025.
The Duchenne program is still expanding. The Phase 3 ULYSSES trial (NCT05933057) is testing givinostat in boys and young men who can no longer walk, with results expected around 2028, and a Phase 2 study is establishing dosing for children ages 2 to 5. A U.S. registry called PROVIDUS is tracking 300 patients on the drug in real-world use. Outside Duchenne, givinostat is in a Phase 3 trial (GIV-IN PV, NCT06093672) against hydroxyurea in high-risk polycythemia vera, a rare blood cancer driven by the JAK2 mutation, where the drug holds FDA Fast Track designation. Italfarmaco also lists Becker muscular dystrophy and ALS among its rare disease programs, though a Phase 2 Becker study finished in 2021 and no new trial has been registered in either condition.
5diseases
Milan, Italy
BridgeBio PharmaSpecialistBBIO
BridgeBio Pharma develops therapies for genetic diseases using a subsidiary model to advance programs from discovery through commercialization. The company's lead product Attruby (acoramidis) was FDA-approved in November 2024 for ATTR cardiomyopathy, based on the placebo-controlled ATTRibute-CM trial in 611 adults. Oral infigratinib for achondroplasia (Breakthrough Therapy designation) reported positive Phase 3 PROPEL 3 results in February 2026, and the full results published in the New England Journal of Medicine show children grew about 1.74 cm more per year than on placebo in the main analysis, or 2.10 cm per year as a simple average. BridgeBio says it is the first achondroplasia drug to show a statistically significant improvement in body proportions against placebo. On October 6, 2026 the FDA accepted the infigratinib application for children with achondroplasia under priority review, with a decision date of February 4, 2027, and BridgeBio plans to file in Europe in the fourth quarter of 2026. The FDA is also reviewing 2 more BridgeBio applications: BBP-418 for limb-girdle muscular dystrophy type 2I/R9, with a decision date of November 27, 2026, and encaleret for autosomal dominant hypocalcemia type 1 (ADH1), with a decision date of May 8, 2027.
4diseases
Palo Alto, United States
Neurocrine BiosciencesDiversifiedNBIX
Neurocrine Biosciences develops treatments for rare and under-addressed neurological, neuroendocrine and neuropsychiatric disorders. The company markets INGREZZA (valbenazine) for tardive dyskinesia and Huntington's chorea, CRENESSITY (crinecerfont), approved in December 2024 as a first-in-class, non-steroidal add-on treatment for classic congenital adrenal hyperplasia, and VYKAT XR (diazoxide choline), the first FDA-approved medicine for hyperphagia in Prader-Willi syndrome, added through the $2.9 billion acquisition of Soleno Therapeutics that closed in May 2026.
4diseases
San Diego, United States
Crinetics PharmaceuticalsSpecialistCRNX
Crinetics Pharmaceuticals is a San Diego biotech with one clear focus. They build oral pills for rare hormone diseases that, for decades, have been treated mostly with injections or imprecise hormone replacement. The company was started in 2008 by four scientists who left Neurocrine Biosciences (Scott Struthers, Stephen Betz, Frank Zhu, and Ana Kusnetzow) and went public on the NASDAQ in 2018 under the ticker CRNX. On July 6, 2026, Crinetics agreed to be acquired by Vertex Pharmaceuticals for $85.00 per share in cash (approximately $10 billion equity value). The transaction closed on September 1, 2026, and Crinetics is now part of Vertex. Its medicines and pipeline programs described below continue under Vertex.
Their first FDA approval came in September 2025, when Palsonify (the brand name for paltusotine) was approved for acromegaly. Acromegaly is a rare disorder where the body makes too much growth hormone, usually because of a small tumor on the pituitary gland. For most adult patients, the standard treatment had been monthly injections at a doctor's office for years on end. Palsonify is the first oral once-daily pill that works the same way the injections do, and in the Phase 3 PATHFNDR-1 trial, 83% of patients on Palsonify kept their hormone levels in the normal range compared to 4% on placebo. Crinetics runs a patient support program called CrinetiCARE that helps with insurance, copays, and getting started on treatment.
The next major drug in development is atumelnant, which is being studied for two related rare hormone diseases. Both classic congenital adrenal hyperplasia (CAH) and ACTH-dependent Cushing's syndrome have historically forced patients to take very high doses of steroids to keep their disease under control. The high steroid doses do their job but they also cause serious long-term problems including heart disease, weight gain, weakened bones, and metabolic issues. Atumelnant takes a different approach by blocking the signal that tells the adrenal glands to overproduce, which could give patients a way to lower their steroid doses safely. The pivotal Phase 3 CALM-CAH adult trial dosed its first patient in December 2025, a Phase 2/3 pediatric trial called BALANCE-CAH started in January 2026, and the FDA has granted atumelnant Orphan Drug Designation for CAH.
Earlier in the pipeline, Crinetics is also developing an oral pill for congenital hyperinsulinism (a rare cause of dangerously low blood sugar in babies and young children) and has preclinical programs in hyperaldosteronism, thyroid eye disease, and polycystic ovary syndrome. The throughline across the company is consistent: find rare endocrine diseases where today's treatments rely on injections or blunt hormone replacement, and give patients a precise daily oral alternative that they can take at home instead of in a clinic.
4diseases
San Diego, United States
Azafaros B.V.Specialist
Azafaros is a clinical-stage biotechnology company developing brain-penetrant, oral small-molecule therapies for rare lysosomal storage disorders. The company was spun out from research at Leiden University and Amsterdam UMC. Lead program nizubaglustat targets both Niemann-Pick disease type C and GM1/GM2 gangliosidoses, with positive Phase 2 topline data reported.
4diseases
Leiden, Netherlands
Zevra TherapeuticsSpecialistZVRA
Zevra Therapeutics is a Florida-based rare disease company, renamed from KemPharm in February 2023 to mark its pivot to rare and ultra-rare conditions. Miplyffa (arimoclomol), approved in September 2024, was the first FDA-approved treatment for Niemann-Pick disease type C. Through its 2023 acquisition of Acer Therapeutics, Zevra also markets Olpruva (sodium phenylbutyrate) for certain urea cycle disorders and is running the Phase 3 DiSCOVER trial of celiprolol (Edsivo) for vascular Ehlers-Danlos syndrome under a Special Protocol Assessment with the FDA.
4diseases
Celebration, United States
TG TherapeuticsDiversifiedTGTX
TG Therapeutics is a biotechnology company built around a single antibody, ublituximab, that it has been developing since 2012. The company took shape when a small private startup holding a license to the antibody merged into a public shell, Manhattan Pharmaceuticals, and took the TG Therapeutics name that year under founder and CEO Michael Weiss. For most of its first decade TG was a cancer company, and that chapter ended badly: in 2022 it withdrew its approved lymphoma pill Ukoniq (umbralisib) from the market and pulled a pending application in chronic lymphocytic leukemia after a large trial showed a survival imbalance. TG then bet everything on multiple sclerosis, moved its headquarters from New York to Morrisville, North Carolina, and today trades on Nasdaq under the ticker TGTX.
The bet paid off. BRIUMVI (ublituximab-xiiy) was approved by the FDA on December 28, 2022 for relapsing forms of multiple sclerosis. It works by depleting B cells, the immune cells that drive much of the inflammation in MS, through a marker on their surface called CD20, and its main practical advantage over older B cell therapies is speed: after the first two starter doses, maintenance treatment is a one-hour infusion every six months. Sales have grown quickly, reaching $594 million in the U.S. in 2025, and TG expects roughly $890 to $905 million in 2026. Neuraxpharm sells the drug in Europe, where it was approved in June 2023. In May 2026 the Phase 3 ENHANCE study showed that a single 600 mg infusion on day one delivers the same drug exposure as the current two-step start, and a Phase 3 trial of a subcutaneous injection version, designed for dosing every two or three months, is fully enrolled with results expected around the end of 2026 or early 2027. A Phase 2/3 study in children ages 10 to 17 with relapsing MS began in July 2026.
For the rare disease community, the program to watch is myasthenia gravis. In June 2026 TG reported that 9 of 11 patients with anti-AChR antibody-positive myasthenia gravis in an early study of subcutaneous BRIUMVI reached a clinically meaningful improvement in daily-living symptoms at 24 weeks, and in July 2026 it started a randomized, placebo-controlled Phase 2 trial (NCT07673744) that the company describes as potentially registration-directed. The design is unusual: every patient first receives a round of efgartigimod, an approved FcRn blocker that lowers antibody levels quickly, and those who respond are then randomized to BRIUMVI or placebo to see which group stays well longer. Results are expected in 2028. TG is also testing BRIUMVI in treatment-resistant schizophrenia and, through a license with Precision BioSciences, an off-the-shelf CD19 CAR-T cell therapy called azer-cel in progressive multiple sclerosis and other B cell autoimmune diseases, with the first data expected in the second half of 2026.
4diseases
Morrisville, United States
Cogent BiosciencesSpecialistCOGT
Cogent Biosciences is a Waltham, Massachusetts biotech, with a second research site in Boulder, Colorado, that is on the verge of its first approvals. The company began life in 2014 as Unum Therapeutics, a cell therapy company that went public in 2018 and struggled. In July 2020 it acquired Kiq, a private company holding the rights to a KIT inhibitor originally discovered at Plexxikon, renamed itself Cogent Biosciences that October under CEO Andrew Robbins, and wound down the cell therapy work. Everything since has been built around that one molecule, bezuclastinib, and Cogent trades on Nasdaq as COGT.
Bezuclastinib is a pill designed to block a specific mutant form of the KIT protein, KIT D816V, which drives roughly 90 to 95% of systemic mastocytosis, a rare disease in which abnormal mast cells accumulate in the bone marrow, skin, and organs. What sets it apart from earlier KIT drugs is selectivity: it is built to hit the mutant protein while largely sparing related enzymes, and it was designed to stay out of the brain, which is meant to avoid the cognitive side effects seen with avapritinib (Ayvakit), the only approved targeted therapy in this space. In the placebo-controlled SUMMIT trial in non-advanced systemic mastocytosis, reported in July 2025, patients on bezuclastinib had a significantly larger drop in total symptom score at 24 weeks than patients on placebo, and 87% saw their serum tryptase fall by at least half, compared with none on placebo. The most common side effects were hair color change and altered taste, with liver enzyme elevations in about one in five patients. The FDA accepted the application with a decision date of December 30, 2026. In the single-arm APEX trial in advanced systemic mastocytosis, a more aggressive form that often overlaps with blood cancers, 65% of evaluable patients responded, and Cogent submitted that application on June 30, 2026.
The third indication is gastrointestinal stromal tumor (GIST), another cancer driven by KIT mutations. In the Phase 3 PEAK trial, reported in November 2025 and presented at ASCO in 2026, adding bezuclastinib to sunitinib in patients whose GIST had progressed on imatinib cut the risk of progression or death in half, extending median progression-free survival from 9.2 to 16.5 months, the first positive Phase 3 result in second-line GIST in more than two decades. The FDA granted priority review with a decision date of November 30, 2026. Cogent has hired its full commercial field team, signed a long-term manufacturing agreement in September 2026, and offers expanded access programs in both systemic mastocytosis and GIST for patients who cannot join a trial. Behind bezuclastinib, the company has three early-stage precision cancer drugs in Phase 1: CGT4859 for FGFR2 and FGFR3-driven tumors including bile duct cancer, CGT4255 for HER2-mutant cancers, and CGT6297 for PIK3CA-mutant breast and endometrial cancers, plus preclinical programs against pan-KRAS and the JAK2 V617F mutation behind polycythemia vera and other myeloproliferative neoplasms. With $866 million in cash on a pro forma basis at mid-2026, Cogent says it is funded into late 2028.
4diseases
Waltham, United States
Annexon BiosciencesSpecialistANNX
Annexon Biosciences is a clinical-stage biopharmaceutical company developing therapies that inhibit complement C1q for rare neuroinflammatory and neurodegenerative diseases. The company's lead candidate ANX005 completed Phase 3 for Guillain-Barré syndrome, with a BLA submission expected in the fourth quarter of 2026 and an EU MAA filed in January 2026. ANX005 also completed Phase 2 studies in Huntington's disease in 2022 and ALS in 2024. ANX007 targets complement-mediated retinal diseases including geographic atrophy (Phase 3).
3diseases
Brisbane, United States
Ascendis Pharma A/SSpecialistASND
Ascendis Pharma is a biopharmaceutical company applying its TransCon technology platform to develop long-acting prodrug therapies for rare endocrine diseases. The company markets Skytrofa for growth hormone deficiency in children and adults, Yorvipath for hypoparathyroidism in adults, and Yuviwel for achondroplasia.
3diseases
Copenhagen, Denmark
Avidity BiosciencesSpecialist
Avidity Biosciences is a San Diego biotech built around a delivery problem that stumped the field for decades: RNA medicines are powerful, but they could not reach muscle tissue. Avidity's answer is the antibody oligonucleotide conjugate (AOC), which attaches an RNA drug to a monoclonal antibody that homes to a receptor on muscle cells, carrying the payload where naked RNA cannot go.
That platform produced three late-stage programs in three different muscular dystrophies, and Novartis bought the company to get them. The deal was announced in October 2025 and completed on February 27, 2026, at $72.00 per share in cash, valuing Avidity at approximately $12 billion. Avidity is now a wholly owned Novartis subsidiary and no longer trades publicly.
The three programs have gone in different directions since. Del-desiran, for myotonic dystrophy type 1, did not meet the primary endpoint of its Phase 3 HARBOR study. Novartis reported on September 8, 2026 that the drug did not significantly improve video hand opening time, a measure of hand myotonia, compared with placebo. Novartis said there was evidence of activity on some secondary and exploratory measures, that safety was consistent with earlier data, and that it is reviewing the full dataset with regulators to determine whether and how the program continues. Del-zota, for Duchenne muscular dystrophy in patients amenable to exon 44 skipping, has been filed for accelerated approval and granted FDA priority review. Del-brax, for facioscapulohumeral muscular dystrophy (FSHD), met its primary endpoint in a Phase 1/2 study, and Novartis plans to meet with the FDA on next steps based on that biomarker data.
For patients, the picture is mixed. Two of the three programs are moving toward regulators with the scale of a large company behind them. Myotonic dystrophy type 1 still has no approved treatment aimed at its genetic cause, and the HARBOR result means that remains true for now.
3diseases
San Diego, United States
bluebird bioSpecialistBLUE
bluebird bio is a gene therapy company with 3 FDA-approved products: Zynteglo (betibeglogene autotemcel) for transfusion-dependent beta thalassemia, Lyfgenia (lovotibeglogene autotemcel) for sickle cell disease, and Skysona (elivaldogene autotemcel) for cerebral adrenoleukodystrophy. The company was acquired by Carlyle Group and SK Capital Partners in a take-private deal completed June 2025 after facing commercial challenges with its gene therapy launches.
3diseases
Somerville, United States
Corcept TherapeuticsSpecialistCORT
Corcept Therapeutics is a Redwood City, California company focused on cortisol modulation, founded in 1998 by Stanford psychiatrists Alan Schatzberg and Joseph Belanoff. Korlym (mifepristone), approved in 2012, was the first FDA-approved treatment for hypercortisolism (Cushing syndrome). Its next-generation cortisol modulator relacorilant received a complete response letter for hypercortisolism in December 2025. Corcept resubmitted the application in June 2026, and the FDA decision date is December 17, 2026. The same molecule was approved as Lifyorli in March 2026 for platinum-resistant ovarian cancer in combination with nab-paclitaxel.
3diseases
Redwood City, United States
Editas MedicineSpecialistEDIT
Editas Medicine develops CRISPR/Cas9 gene-editing therapies for rare genetic diseases. EDIT-101, an in vivo CRISPR therapy for Leber congenital amaurosis type 10 (LCA10), was the first in vivo CRISPR medicine dosed in patients but enrollment was paused due to the small eligible population. In late 2024 the company undertook a major restructuring, discontinuing its ex vivo reni-cel program and pivoting to in vivo gene editing approaches.
3diseases
Cambridge, United States
Solid BiosciencesSpecialistSLDB
Solid Biosciences is a Charlestown, Massachusetts gene therapy company whose story is one of stubborn persistence in Duchenne muscular dystrophy. After its first-generation candidate ran into safety and potency limits, the company rebuilt around a next-generation therapy, SGT-003, which pairs a rationally designed muscle-tropic capsid (AAV-SLB101) with an improved microdystrophin cargo designed to restore key parts of the protein complex Duchenne destroys.
The rebuild appears to be paying off. In the Phase 1/2 INSPIRE DUCHENNE study, which had dosed 53 participants as of August 4, 2026, SGT-003 produced strong microdystrophin expression with a lower-burden, steroid-only immune regimen, and cardiac monitoring has shown reductions in markers of heart injury with early signals of improved systolic function, notable because heart failure is what ultimately claims most Duchenne patients. In May 2026 Solid dosed the first participant in IMPACT DUCHENNE, a multi-country, randomized, placebo-controlled Phase 3 trial, and it plans to meet the FDA late in 2026 to ask about a possible accelerated approval path.
Beyond Duchenne, Solid is applying its cardiac gene therapy expertise to catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare inherited arrhythmia that can cause sudden death in young people, with SGT-501 in a Phase 1b trial. It is also testing SGT-212 in Friedreich ataxia in the Phase 1b FALCON trial. Its next-generation capsid is also being licensed to other developers, extending the platform's reach beyond its own pipeline.
3diseases
Charlestown, United States
Dyne TherapeuticsSpecialistDYN
Dyne Therapeutics develops targeted muscle therapies using its FORCE platform, which links antisense oligonucleotides to an antibody fragment that binds transferrin receptor 1 (TfR1), a doorway into muscle and nerve cells. Its Duchenne muscular dystrophy drug zeleciment rostudirsen (z-rostudirsen, DYNE-251), an exon 51 skipping therapy given into a vein every 4 weeks, is under FDA review for accelerated approval. The FDA accepted the application with Priority Review in July 2026 and is due to decide by January 21, 2027. The confirmatory Phase 3 FORZETTO trial began in May 2026.
For myotonic dystrophy type 1, zeleciment basivarsen (z-basivarsen, DYNE-101) holds FDA Breakthrough Therapy and Fast Track designations. Enrollment of 71 people in the registrational cohort of the Phase 1/2 ACHIEVE trial finished in June 2026, with topline results planned for the first quarter of 2027, and dosing in the confirmatory Phase 3 HARMONIA trial began in July 2026. In July 2026 the FDA also cleared Dyne to start a Phase 1 trial of DYNE-302 for facioscapulohumeral muscular dystrophy (FSHD).
3diseases
Waltham, United States
Keros TherapeuticsSpecialistKROS
Keros Therapeutics is a clinical-stage biopharmaceutical company developing therapies for disorders linked to dysfunctional signaling of the transforming growth factor-beta (TGF-beta) family of proteins. The company's lead product candidate, rinvatercept, is in development for Duchenne muscular dystrophy and amyotrophic lateral sclerosis. Its most advanced product candidate, elritercept (KER-050), is in development for cytopenias including anemia and thrombocytopenia in patients with myelodysplastic syndromes and myelofibrosis, and is partnered with Takeda. Keros discontinued its PAH program (cibotercept/KER-012) in May 2025 following the failed TROPOS Phase 2 trial.
3diseases
Lexington, United States
Taysha Gene TherapiesSpecialistTSHA
Taysha Gene Therapies is a clinical-stage biotechnology company developing AAV-based gene therapies for rare monogenic diseases of the central nervous system. The company is focused on TSHA-102 for Rett syndrome, its lead program now in a pivotal trial. Taysha previously had programs for giant axonal neuropathy and CLN1 Batten disease but has deprioritized these to concentrate resources on Rett.
3diseases
Dallas, United States
Tenaya TherapeuticsSpecialistTNYA
Tenaya Therapeutics is a clinical-stage biotechnology company developing gene therapies and small molecule treatments for rare genetic heart diseases. Lead programs include TN-201 for MYBPC3-associated hypertrophic cardiomyopathy and TN-401 for PKP2-associated arrhythmogenic right ventricular cardiomyopathy (ARVC), which dosed its first patient in the RIDGE-1 Phase 1b/2 trial in November 2024.
3diseases
South San Francisco, United States
RallybioSpecialist
Rallybio agreed in March 2026 to merge with Candid Therapeutics, but Candid ended the agreement in May 2026 to pursue a deal with UCB, and Rallybio received a termination fee and remains independent. Rallybio previously focused on antibodies and engineered proteins for rare diseases across hematology and other therapeutic areas.
3diseases
New Haven, United States
Krystal BiotechSpecialistKRYS
Krystal Biotech is a Pittsburgh gene therapy company founded in 2016 by the husband-and-wife team of Krish Krishnan, its chairman and CEO, and Suma Krishnan, its president of research and development. Its idea is simple to state and was hard to pull off: use a disabled herpes simplex virus (HSV-1) as a delivery vehicle that can carry a full-size healthy gene into cells, can be given again and again because it does not trigger the immune response that limits other gene therapy vectors, and can be applied as a gel, an eye drop, or an inhaled mist rather than an intravenous infusion. Krystal makes everything itself at two facilities in the Pittsburgh area, ANCORIS and ASTRA, and trades on Nasdaq under KRYS.
The proof is VYJUVEK (beremagene geperpavec-svdt), approved by the FDA on May 19, 2023 as the first redosable gene therapy and the first treatment to address the root cause of dystrophic epidermolysis bullosa, a genetic skin disease in which a missing collagen protein (COL7A1) leaves the skin so fragile that it blisters and tears from minor friction. VYJUVEK is a topical gel applied to wounds by a nurse, a caregiver, or the patient at home, and it delivers working copies of the COL7A1 gene to skin cells so they can produce the missing collagen. A September 2025 label update extended it to patients from birth. It is also approved in Europe (April 2025), Japan (July 2025), and the United Kingdom (May 2026). Sales reached $389 million in 2025 and $236 million in the first half of 2026, and the company ended June 2026 with $1.1 billion in cash.
Krystal is now applying the same vector to the eye, the lung, and other skin diseases. KB803, an eye-drop version of VYJUVEK for the painful corneal abrasions many people with dystrophic EB experience, finished enrolling its pivotal IOLITE study in April 2026 with results expected in the fourth quarter of 2026. KB801, an eye drop that produces nerve growth factor, is in a registrational trial for neurotrophic keratitis with data expected around the end of 2026. In the lung, KB407 is an inhaled therapy that delivers the CFTR gene for cystic fibrosis, aimed first at the roughly 10% of patients who cannot take or do not benefit from CFTR modulator pills. In January 2026 Krystal reported that the therapy reached airway cells and produced normal CFTR protein in treated patients; a repeat-dose safety study is underway, and the company plans to agree on a registrational trial design with the FDA in late 2026 and start it in 2027. KB408 delivers the SERPINA1 gene for alpha-1 antitrypsin deficiency and is enrolling a repeat-dose cohort, with results now expected in 2027. KB111 for Hailey-Hailey disease, a rare blistering skin disorder, started its first study in 2026 with early results expected before year end. In oncology, an inhaled version of KB707, which prompts lung tumors to produce immune-stimulating proteins, showed a 31% response rate in combination with pembrolizumab in heavily pretreated lung cancer at ASCO 2026, and a related program was expanded in 2026 to Gorlin syndrome, a genetic condition that causes hundreds of basal cell skin cancers over a lifetime.
One program has gone quiet: KB105 for a form of congenital ichthyosis has not appeared in the company's updates since early 2025 and should be considered dormant.
3diseases
Pittsburgh, United States
Capricor Therapeutics, Inc.SpecialistCAPR
Capricor Therapeutics is a San Diego biotech built around one experimental medicine, deramiocel, a cell therapy for Duchenne muscular dystrophy. The FDA is due to decide on it by November 22, 2026.
The FDA turned down Capricor's first application, for Duchenne heart disease, in July 2025. Capricor then reported Phase 3 HOPE-3 results showing slower loss of arm and hand function, which the FDA's reviewers said were not statistically significant under the trial's original analysis plan, a finding Capricor disputes. In July 2026 an FDA advisory committee voted 9 to 3 against the heart use. Capricor now seeks approval for upper limb function.
Linda Marbán, its chief executive, co-founded Capricor in 2005, and it trades on Nasdaq as CAPR. Before Duchenne it tested the same cells after heart attacks, in dilated cardiomyopathy and in COVID-19, and its StealthX exosome platform produced a COVID-19 vaccine tested by the National Institute of Allergy and Infectious Diseases. Those programs have ended or are on hold.
2diseases
San Diego, United States
Gyre Therapeutics (formerly Catalyst Biosciences)DiversifiedGYRE
Gyre Therapeutics, formerly Catalyst Biosciences, completed a business combination in October 2023 and now operates as a biopharmaceutical company focused on fibrotic and inflammatory diseases. The company develops therapies for liver fibrosis and other fibrotic conditions. Gyre completed its all-stock acquisition of Cullgen Inc., valued at approximately $300 million, on May 4, 2026, adding a targeted protein degradation platform. Cullgen CEO Ying Luo became Gyre's president and CEO.
2diseases
South San Francisco, United States
Intercept PharmaceuticalsSpecialist
Intercept Pharmaceuticals, a Morristown, New Jersey company focused on rare liver diseases, has been a wholly owned subsidiary of Alfasigma since November 2023. Its first drug, Ocaliva (obeticholic acid), is no longer available in the US. Intercept withdrew it from the US market on September 11, 2025 at the FDA's request, after the FDA raised concerns about serious liver injury, and the FDA placed a clinical hold on all Intercept trials of obeticholic acid run under a US IND. The FDA withdrew Ocaliva's approval effective November 24, 2025. Intercept now markets Lynavoy (linerixibat) in the US, a twice-daily tablet the FDA approved on March 17, 2026 for itch caused by primary biliary cholangitis in adults. GSK developed it and licensed worldwide rights to Alfasigma in a deal that closed on April 27, 2026.
2diseases
Morristown, United States
Lexeo TherapeuticsSpecialistLXEO
Lexeo Therapeutics is a New York gene therapy company focused on genetic heart disease, a space most gene therapy developers avoided while chasing neurological and blood disorders. Its lead program, LX2006, delivers a working copy of the frataxin gene to heart muscle in Friedreich ataxia, where cardiomyopathy, not the better-known neurological decline, is the leading cause of death.
The program has collected nearly every FDA acceleration mechanism available: Breakthrough Therapy, Regenerative Medicine Advanced Therapy, Fast Track, and orphan drug designations, on the strength of interim Phase 1/2 data showing reductions in abnormal left ventricular mass and improvements in cardiac biomarkers. In 2026 Lexeo launched SUNRISE-FA 2, the pivotal study intended to support an accelerated-approval BLA in 2028. For Friedreich ataxia families, it is the first serious attempt to treat the disease's deadliest feature at its genetic root.
The second program, LX2020, targets PKP2 arrhythmogenic cardiomyopathy, an inherited arrhythmia disease that can cause sudden cardiac death in young, otherwise healthy people, and holds its own RMAT designation. Both programs use AAV delivery refined for cardiac tissue, the company's core bet.
2diseases
New York, United States
Protagonist TherapeuticsDiversifiedPTGX
Protagonist Therapeutics develops peptide-based therapeutics for rare hematologic diseases. The company's lead candidate rusfertide, partnered with Takeda for ex-US commercialization, is a hepcidin mimetic under FDA Priority Review (NDA accepted, PDUFA date Q3 2026) for polycythemia vera, a rare myeloproliferative disorder of excessive red blood cell production.
2diseases
Newark, United States
Rhythm PharmaceuticalsSpecialistRYTM
Rhythm Pharmaceuticals develops precision medicines targeting the MC4R pathway for rare genetic and hypothalamic obesity. IMCIVREE (setmelanotide) is FDA-approved for obesity caused by POMC, PCSK1, or LEPR deficiency, for Bardet-Biedl syndrome, and for acquired hypothalamic obesity (March 2026 expansion). Prader-Willi syndrome is in Phase 2 clinical development.
2diseases
Boston, United States
Vanda Pharmaceuticals Inc.DiversifiedVNDA
Vanda Pharmaceuticals is a Washington, DC drugmaker founded in 2003 that markets Hetlioz (tasimelteon), approved for nighttime sleep problems in Smith-Magenis syndrome as well as non-24-hour sleep-wake disorder, and its other medicines include Fanapt, Ponvory and Nereus, with Bysanti approved in February 2026. In gastroparesis, the FDA declined to approve Vanda's tradipitant in September 2024, and Vanda has challenged that outcome; the FDA later approved tradipitant, as Nereus, to prevent vomiting caused by motion.
2diseases
Washington, DC, United States
Beam TherapeuticsSpecialistBEAM
Beam Therapeutics develops base-editing therapies, a precision gene-editing approach that makes single-letter DNA changes without cutting both DNA strands. Risto-cel (formerly BEAM-101), a base-edited cell therapy made from the patient's own stem cells for sickle cell disease, completed dosing in the Phase 1/2 BEACON trial, and Beam plans to file for FDA approval as early as the end of 2026. BEAM-302 for alpha-1 antitrypsin deficiency began dosing a pivotal cohort in July 2026 that Beam says could support accelerated approval. BEAM-301 for glycogen storage disease type 1a is in a Phase 1/2 trial.
2diseases
Cambridge, United States
Scholar RockSpecialistSRRK
Scholar Rock is a Cambridge, Massachusetts biotech that spent roughly a decade chasing a target the rest of the industry had largely given up on, and in September 2026 became the first company to make it work. The company was built on research from Harvard Medical School and Boston Children's Hospital into the TGF-beta superfamily, a group of proteins that regulate how tissue grows and repairs itself. Its central insight is a matter of timing. Most of these growth factors are produced in an inactive precursor form and have to be switched on before they do anything, and Scholar Rock designs antibodies that grab the precursor rather than the finished protein. Targeting the switch instead of the signal is what allows its drugs to hit one growth factor without disturbing its close relatives, which is where earlier attempts in this field ran aground. The company trades on Nasdaq under SRRK.
The proof is ISEMBYLD (apitegromab), approved by the FDA on September 11, 2026 for spinal muscular atrophy in adults and children 2 and older who are already receiving an SMN2-targeted treatment. It is the first muscle-targeted treatment for SMA and the company's first approved product. Every SMA drug before it, Spinraza, Zolgensma and Evrysdi, worked on the genetic root of the disease by protecting motor neurons, and none of them addressed muscle that had already wasted away. Apitegromab blocks myostatin, the body's natural brake on muscle growth, which is why it is given alongside an existing SMN therapy rather than in place of one. In the Phase 3 SAPPHIRE trial, patients aged 2 to 12 on the recommended dose gained motor function over a year while those on an SMN drug alone continued to lose it. Drug companies have been trying to drug myostatin since the early 2000s across muscular dystrophy, cachexia and age-related muscle loss, and the record until this approval was a long run of failures.
The same platform is aimed at several other areas. Apitegromab is also being studied in cardiometabolic disease, where preserving muscle during rapid weight loss on GLP-1 drugs is an open question, and the pipeline includes programs in immuno-oncology targeting TGF-beta 1 in solid tumors, plus earlier work in fibrosis and anemia. For SMA families, the practical significance is narrower and clearer: after a decade in which every new option worked the same way, there is now a second mechanism to add on top.
2diseases
Cambridge, United States
Arcturus Therapeutics Holdings IncSpecialistARCT
Arcturus Therapeutics is a commercial mRNA medicines and vaccines company developing therapies for liver and respiratory rare diseases. The company's platform technologies include STARR, a self-amplifying mRNA technology, and LUNAR, a lipid-mediated delivery system for therapeutic RNA and DNA to target cells.
2diseases
San Diego, United States
Passage BioSpecialist
Passage Bio is a gene therapy company focused on AAV-delivered therapeutics for rare central nervous system diseases. The company's lead active program is PBFT02 for frontotemporal dementia with GRN mutations. In August 2024, Passage Bio out-licensed its pediatric programs PBGM01 (GM1 gangliosidosis) and PBKR03 (Krabbe disease) to GEMMA Biotherapeutics.
2diseases
Philadelphia, United States
Beren Therapeutics P.B.C.Specialist
Beren Therapeutics is a public benefit corporation in Thousand Oaks, California developing cyclodextrin medicines for diseases of cholesterol trafficking. Its first program is adrabetadex, an investigational drug given into the spinal fluid for infantile-onset Niemann-Pick disease type C (NPC), meaning neurological symptoms that begin before age 6. The FDA is due to decide on it by November 17, 2026.
Beren's subsidiary Mandos LLC bought adrabetadex from Mallinckrodt in July 2021, after Mallinckrodt stopped developing it when a Phase 2b/3 trial in people aged 4 to 21 showed no difference from sham. Beren's application rests mainly on analyses comparing treated children with untreated patients from records, and the FDA accepted it with priority review in February 2026 before extending the review by 3 months in May.
Jason Camm, Beren's founder and chief executive, announced $300 million in financing in June 2026 to prepare a possible U.S. launch and family support programs. Beren has run an expanded access program for adrabetadex since 2021, and in September 2026 it started Test for NPC, which offers no-cost genome sequencing to eligible families.
1diseases
Thousand Oaks, United States
CinDome PharmaDiversified
CinDome Pharma is a Cincinnati company in the CinRx Pharma portfolio developing deudomperidone (CIN-102), a deuterated, newly formulated version of domperidone that the company says is designed for reduced heart rhythm (QT) risk. It completed enrollment in envisionGI, a Phase 2 trial that enrolled 416 adults with idiopathic gastroparesis according to ClinicalTrials.gov, in March 2026, after an earlier Phase 2 trial in diabetic gastroparesis.
1diseases
Cincinnati, United States
Elevar TherapeuticsSpecialist
Elevar Therapeutics is a Fort Lee, New Jersey biopharmaceutical company (formerly LSK BioPharma) and a majority-owned subsidiary of South Korea's HLB Group. Its lead programs are lirafugratinib, a selective FGFR2 inhibitor licensed globally from Relay Therapeutics in December 2024 for FGFR2 fusion-driven cholangiocarcinoma, approved by the FDA as Lyrfigtu on September 23, 2026, and rivoceranib, a VEGFR-2 inhibitor developed with camrelizumab for first-line hepatocellular carcinoma. The FDA declined to approve that combination in July 2026 because of problems found at a manufacturing site inspection, and Elevar says it is preparing to resubmit.
1diseases
Fort Lee, United States
InnoPharmaxSpecialist
InnoPharmax is a Taipei, Taiwan-based pharmaceutical company working on a deceptively practical idea: taking chemotherapy drugs that have only ever existed as hospital IV infusions and turning them into capsules a patient can swallow at home. Its lead program, D07001, is an oral softgel formulation of gemcitabine, a chemotherapy backbone that has been given intravenously for roughly 3 decades.
D07001 is more than a convenience play. The capsule uses metronomic dosing, meaning low doses taken frequently rather than the large periodic infusions of traditional chemotherapy. That schedule is designed to keep killing tumor cells while also modulating the immune response and cutting off the blood vessel growth tumors depend on, with less of the systemic toxicity that makes conventional gemcitabine hard to tolerate. For bile duct cancer (cholangiocarcinoma), an aggressive rare cancer where patients often carry a double burden of disease symptoms and chemotherapy side effects, an oral low-toxicity option would represent a genuine shift in how treatment feels day to day.
The company's pivotal Phase 3 study of D07001 (NCT06622057) began in June 2026, with sites in the United States and Taiwan. It is a double-blind, randomized trial in about 240 adults with advanced biliary tract cancer, including bile duct cancer, after gemcitabine plus cisplatin and then FOLFOX or irinotecan chemotherapy stopped working or caused side effects they could not tolerate, or who declined FOLFOX. Everyone takes capecitabine pills, and each person also gets 1 of 2 D07001 doses or a placebo; the main goal is longer survival. A separate open-label Phase 2/3 study in Taiwan is testing D07001 with capecitabine or TS-1, and Phase 1 results in advanced solid tumors were published in The Oncologist in 2025. The company has also said it plans to pursue a Phase 3 program in pancreatic cancer.
Like many mid-sized Taiwanese pharma companies, InnoPharmax funds its research partly through a specialty and generics business: it won approval for a generic version of sapropterin (the phenylketonuria treatment better known as Kuvan) and, with partner Shandong New Era Pharmaceutical, brought a gadopentetate imaging agent through China's NMPA. A late-2024 capital raise of NT$225 million was earmarked specifically to push D07001 through the clinic under CEO Wei-Hua Hao.
1diseases
Taipei, Taiwan
Cadrenal TherapeuticsSpecialistCVKD
Cadrenal Therapeutics is a late-stage biopharmaceutical company developing therapies for life-threatening immune and thrombotic (blood clotting) conditions.
The lead program, CAD-1005, is a first-in-class 12-lipoxygenase (12-LOX) inhibitor for heparin-induced thrombocytopenia (HIT) — a deadly immune-mediated reaction where the body's response to heparin causes dangerous clots. Mortality from HIT can exceed 20% in some studies. If approved, CAD-1005 would be the first new HIT therapy in more than 2 decades.
On April 30, 2026, Cadrenal announced a successful End-of-Phase 2 meeting with the FDA and a clear Phase 3 path. Phase 2 data showed a more than 25% absolute reduction in thrombotic events when CAD-1005 was added to standard anticoagulant therapy. The planned Phase 3 trial is randomized, blinded, and placebo-controlled in approximately 120 patients across up to 50 sites worldwide, with a projected NDA submission in 2029. CAD-1005 holds FDA Orphan Drug and Fast Track designations and orphan drug status from the European Medicines Agency.
The broader pipeline includes tecarfarin, a late-stage oral blood thinner being developed for patients who need long-term anticoagulation (including those on dialysis or living with a left ventricular assist device), and frunexian, a parenteral Factor XIa inhibitor for use in acute hospital settings.
1diseases
Ponte Vedra Beach, United States
Stoke TherapeuticsSpecialistSTOK
Stoke Therapeutics develops antisense oligonucleotide medicines targeting severe genetic diseases through its proprietary TANGO platform that increases protein output from healthy genes. The company's lead program STK-001 for Dravet syndrome and STK-002 for autosomal dominant optic atrophy represent treatments for rare neurodevelopmental and ophthalmic disorders.
1diseases
Bedford, United States
Regulus TherapeuticsSpecialist
Regulus Therapeutics was a San Diego biotech that Novartis acquired on June 25, 2025. Regulus developed farabursen (formerly RGLS8429), an oligonucleotide that blocks a small RNA called miR-17 to slow cyst growth in autosomal dominant polycystic kidney disease. Novartis now lists farabursen as CYX082 in Phase 1 on its pipeline page, with no filing date given. Regulus no longer runs trials under its own name.
1diseases
San Diego, United States
Actio BiosciencesSpecialist
Actio Biosciences develops precision medicines for rare genetic disorders by translating genetic insights into small molecule treatments. The company focuses on rare genetic epilepsies and other neurological disorders, with its lead program ABS-1230 targeting KCNT1-associated seizure disorders.
1diseases
San Francisco, United States
Enzyvant TherapeuticsSpecialist
Enzyvant, a subsidiary of Sumitomo Pharma, develops regenerative medicine therapies for rare pediatric immune system disorders. The company's FDA-approved RETHYMIC is a groundbreaking therapy that implants processed thymus tissue to rebuild immune function in children with congenital athymia.
1diseases
Cary, United States
Cure Rare DiseaseSpecialist
Cure Rare Disease is a nonprofit organization that partners with academic researchers and clinicians to develop advanced therapeutics for ultra-rare genetic diseases. The organization gained attention for its N-of-1 CRISPR gene therapy program (CRD-TMH-001) for Duchenne muscular dystrophy developed with UMass Chan Medical School. Tragically, the sole patient in the trial died in November 2022 from an AAV-related immune reaction, and the program status is under review.
1diseases
Cambridge, United States
Xeris BiopharmaDiversifiedXERS
Xeris Biopharma is a Chicago-based specialty pharmaceutical company founded in 2005, known for its ready-to-use injectable formulation technology. Its rare disease products include Recorlev (levoketoconazole) for endogenous Cushing syndrome and Keveyis (dichlorphenamide) for primary periodic paralysis, both gained through the 2021 merger with Strongbridge Biopharma. The company also markets Gvoke, a ready-to-use glucagon for severe hypoglycemia. Recorlev ended 2025 with roughly 700 patients on therapy.
1diseases
Chicago, United States
Retrophin (now Travere Therapeutics)SpecialistTVTX
Retrophin rebranded as Travere Therapeutics in November 2020 and is listed separately on Trial Friend. This legacy entry is maintained for historical reference. Sparrow Pharmaceuticals is a separate, independent company focused on cardiometabolic therapeutics and is not affiliated with Retrophin/Travere.
0diseases
San Diego, United States
Rezolute IncSpecialistRZLT
Rezolute is a clinical-stage rare disease company focused on therapies for metabolic and orphan diseases affecting glucose metabolism. The company's lead asset ersodetug is a human monoclonal antibody targeting the insulin receptor. The Phase 3 sunRIZE trial in congenital hyperinsulinism did not meet its primary endpoint (reported December 2025), and Rezolute is exploring next steps with the FDA.
0diseases
Redwood City, United States
Puma BiotechnologyDiversifiedPBYI
Puma Biotechnology is a biopharmaceutical company with a focus on development and commercialization of innovative products for cancer care. The company develops therapies for HER2-positive breast cancer and other oncology indications, with advanced clinical trials ongoing.
0diseases
Los Angeles, United States
Altimmune IncDiversifiedALT
Altimmune is a late clinical-stage biopharmaceutical company developing peptide-based therapeutics for serious liver, metabolic, and cardiometabolic diseases. The company's lead investigational medicine pemvidutide is a balanced glucagon/GLP-1 dual receptor agonist in development for metabolic dysfunction-associated steatohepatitis and other metabolic disorders.
0diseases
Gaithersburg, United States
Sesen Bio IncDiversified
Sesen Bio was a Cambridge, Massachusetts company whose lead drug, Vicineum (VB4-845), was in development for BCG-unresponsive non-muscle invasive bladder cancer. After an FDA complete response letter in August 2021, Sesen paused US development of Vicineum in July 2022, citing the time and cost of another Phase 3 trial. Sesen completed its merger with Carisma Therapeutics on March 7, 2023, and the combined company took the name Carisma Therapeutics. BioSpace and Fierce Biotech reported in April 2025 that Carisma was winding down operations and keeping only 6 staff. Sesen Bio has no active trials or approved drugs.
0diseases
Cambridge, United States
Apeiron Therapeutics IncDiversified
Apeiron Therapeutics (also known as GT Apeiron) is a clinical-stage biopharmaceutical company developing biomarker-driven cancer therapeutics using AI-guided drug design. The company's lead program GTA182 targets MTAP-deleted cancers and presented first-in-human Phase 1 data in December 2025. Note: this is a separate entity from Apeiron Biologics (Austrian, acquired by Ligand Pharmaceuticals), which developed dinutuximab beta for neuroblastoma.
0diseases
San Francisco Bay Area, United States
Rare disease pharmaceutical companies, explained
The counts below are computed from the directory each time the site is built.
Which pharmaceutical companies focus on rare diseases?
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Trial Friend profiles 109 companies that sponsor clinical trials in the 229 rare diseases we track, in 2 groups.
Rare disease specialists (67): companies built around orphan conditions, such as Alnylam Pharmaceuticals, BioMarin Pharmaceutical, Ultragenyx Pharmaceutical, Sarepta Therapeutics, argenx, Ascendis Pharma A/S, PTC Therapeutics and Amicus Therapeutics.
Diversified drugmakers (42): large companies with rare disease divisions, including Novartis, Roche and Genentech, Sanofi and Genzyme, Takeda, Pfizer and AstraZeneca, whose Alexion unit is one of the biggest rare disease businesses in the world.
On each profile: the company's live trials from ClinicalTrials.gov and its FDA-approved drugs.
Which companies have the most rare disease clinical trials?
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Counted by how many of our tracked rare diseases a company has trials in, the big diversified companies have the widest footprints.
Top 8 by disease count: Novartis (82), Roche Holding AG / Genentech (65), Pfizer Inc. (64), Sanofi / Genzyme (54), Takeda Pharmaceutical Company Limited (47), GlaxoSmithKline (46), AstraZeneca PLC (45) and Merck & Co., Inc. (45).
Specialists: run deeper rather than wider pipelines, often 3 to 10 conditions each, so a specialist can still be the most important company for a single disease.
Note: the disease count on each profile updates as trials open and close.
Which companies are developing gene therapies and genetic medicines for rare diseases?
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47 of the 322 drugs in our Drug Decoder are gene therapies, gene editing treatments or RNA medicines, from 18 companies with profiles here.
With genetic medicines in the Drug Decoder: Ionis Pharmaceuticals, Biogen, Alnylam Pharmaceuticals, AstraZeneca PLC, Orchard Therapeutics, Roche Holding AG / Genentech, bluebird bio and Krystal Biotech.
Gene editing specialists: CRISPR Therapeutics, Intellia Therapeutics, Beam Therapeutics and Editas Medicine.
AAV gene therapy companies: Regenxbio, Taysha Gene Therapies, Passage Bio, Solid Biosciences, Tenaya Therapeutics and Lexeo Therapeutics.
RNA medicine companies: Dyne Therapeutics, Avidity Biosciences and Stoke Therapeutics.
Cost: our gene therapy pricing guide explains why these treatments cost what they do.
Which rare diseases have the most companies working on them?
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A handful of conditions draw 20 or more companies each, while others have few or none.
Most crowded: Sickle Cell Disease (30 companies), Multiple Sclerosis (24 companies), Cystic Fibrosis (23 companies), Amyotrophic Lateral Sclerosis (22 companies), Hodgkin Lymphoma (22 companies), Myelodysplastic Syndromes (22 companies), Myasthenia Gravis (22 companies) and Systemic Sclerosis (21 companies).
Why they attract companies: a known biological target, a patient population large enough to enroll trials quickly, and a precedent that the FDA will approve on a measurable endpoint.
Least served: our 2026 trial census found 6 tracked diseases with no recruiting trial anywhere.
Which companies have won FDA approvals for rare disease drugs in 2026?
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Our FDA calendar has recorded 19 rare disease approvals and label expansions so far in 2026.
Most approvals: Ultragenyx and Takeda with 2 each.
Large companies on the list: Takeda, Bristol Myers Squibb, Genentech (Roche) and Johnson & Johnson (Janssen).
First-time launchers: Egetis Therapeutics, Elevar Therapeutics, Scholar Rock and Priovant Therapeutics, each with its first FDA-approved drug.
Source: each decision on the FDA calendar links to the FDA or company announcement behind it.
Which companies have rare disease FDA decisions coming up?
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52 rare disease applications on our FDA calendar are waiting on an FDA decision.
Most pending: Genentech (Roche) (3), BridgeBio Pharma (3), Cogent Biosciences (3), AstraZeneca (Alexion) (3) and United Therapeutics (2).
Dates: the FDA calendar lists every target date with the trial behind each application.
Alerts: sign up on any disease page to be emailed on decision day.
What is the difference between a rare disease specialist and a diversified pharmaceutical company, and why does it matter to patients?
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The difference is how much of the company rides on rare disease, and it changes what patients can expect from each.
Specialist: earns most or all of its revenue from orphan conditions with a small number of programs, so a single trial readout or FDA decision can decide the company's future. More often runs expanded access programs and travel support for its trials and knows its patient communities personally.
Diversified: runs rare disease programs alongside large franchises in cancer, diabetes or immunology. Has long-established copay and free-drug programs once a product is approved.
In the directory: both kinds are tagged so you can filter.
Where are rare disease companies based?
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81 of the 109 companies in the directory are headquartered in the United States.
US clusters: Boston and Cambridge, the San Francisco Bay Area, San Diego, and the Philadelphia and New Jersey corridor.
Outside the US: Japan (4), Switzerland (4), United Kingdom (3), Italy (3) and Belgium (2), plus a handful of other countries.
For patients: trial sites matter more than headquarters. Most of these companies run trials across North America and Europe, and our disease pages map every recruiting site.
How do I find which company is running a clinical trial for my disease?
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Start from your disease page, where every recruiting trial names its sponsor.
Disease page: each trial card names the sponsor, and sponsors with a profile here are linked.
Company profile: shows every rare disease trial that company has open, pulled live from ClinicalTrials.gov, plus its approved drugs from the FDA's label database.
Good to know: academic hospitals sponsor more rare disease trials than companies do, so a trial run by a university is normal and not a lesser option.
What happened to Millennium, Ariad, Ganymed, Kolltan, Constellation, Progenics, Ra Pharmaceuticals and Sigma-Tau?
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They were acquired or renamed, which is the usual fate of a successful rare disease biotech.
Millennium Pharmaceuticals: part of Takeda since 2008.
Ariad Pharmaceuticals: acquired by Takeda in 2017.
Ganymed Pharmaceuticals: bought by Astellas in 2016.
Kolltan Pharmaceuticals: bought by Celldex in 2016.
Constellation Pharmaceuticals: acquired by MorphoSys in 2021; MorphoSys itself was acquired by Novartis in 2024.
Progenics Pharmaceuticals: joined Lantheus in 2020.
Ra Pharmaceuticals: developer of the myasthenia gravis drug now sold as Zilbrysq, acquired by UCB in 2020.
Sigma-Tau Pharmaceuticals: its US business was renamed Leadiant Biosciences in 2017 under its parent Alfasigma.
For patients: the programs usually continue under the new owner, so a trial you joined does not disappear when the company name does.
Why do investors and large pharmaceutical companies pursue rare diseases?
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Because US law rewards it and the trials are smaller.
Orphan Drug Act: a drug for a disease affecting fewer than 200,000 people in the United States gets 7 years of market exclusivity after approval, a tax credit on clinical testing costs and a waiver of the FDA application fee.
Smaller trials: a rare disease drug can succeed on a single well-designed study, and approvals can rest on biomarkers under the accelerated pathway.
Pricing: prices are high because each patient population is small.
The trade-off: a specialist's value can rest on 1 or 2 readouts, which is why these companies are frequently acquired once their lead drug is approved.
Pediatric incentive: our priority review voucher guide covers one more incentive aimed at pediatric rare diseases.
How does Trial Friend choose which companies to list?
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A company gets a profile when it sponsors trials or markets approved drugs in the rare diseases we cover, so the directory grows as we add diseases.
Mix: 82 of the 109 are publicly traded and 27 are private or subsidiaries.
Independence: we do not take payment for listings and do not recruit patients on anyone's behalf.
Data: the trial and approval data on each profile come straight from ClinicalTrials.gov and openFDA and refresh automatically.