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Roche Holding AG / Genentech

Drugmaker with rare disease work · based in Basel, Switzerland · founded 1896 · ticker RHHBY · roche.com

Roche Holding AG / Genentech works on 72 rare diseases we track, including Acute Myeloid Leukemia, Adrenocortical Carcinoma and 70 more. It has 85 active clinical trials, and 42 are looking for volunteers now. It also has 14 FDA-approved rare disease drugs.

The FDA is due to decide on Gazyva (obinutuzumab) for Primary membranous nephropathy by November 2026.

The FDA is due to decide on Enspryng (satralizumab) for MOG antibody-associated disease (MOGAD) by January 10, 2027.

The FDA is due to decide on Vamikibart for Uveitic macular edema by July 2027.

Email me the day the FDA decidesAll upcoming rare disease FDA decisions

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.

Roche Holding AG / Genentech pipeline

Each row lists the diseases Roche Holding AG / Genentech is studying at that stage, from the ones closest to approval down to the earliest work.

Approved
Drugs the FDA has approved.
At the FDA
Waiting on an FDA decision.

Gazyva (obinutuzumab) for Primary membranous nephropathy, with a decision due by November 2026.

Enspryng (satralizumab) for MOG antibody-associated disease (MOGAD), with a decision due by January 10, 2027.

Vamikibart for Uveitic macular edema, with a decision due by July 2027.

Phase 3
Large studies, usually the last step before a company asks the FDA for approval.

Hemophilia A 3 trials recruiting · Membranous Nephropathy 2 trials recruiting · Lupus Nephritis 2 trials recruiting · Von Willebrand Disease recruiting · Multiple Myeloma recruiting · Neuromyelitis Optica recruiting · Haematological Malignancy recruiting · Multiple Sclerosis 4 trials · Acute Myeloid Leukemia 2 trials · Non-Hodgkin Lymphoma · and 4 more

Phase 2
Mid-size studies that check whether a drug works and at what dose.

Mantle Cell Lymphoma 4 trials recruiting · Multiple Myeloma 2 trials recruiting · Cholangiocarcinoma 2 trials recruiting · Huntington Disease 2 trials recruiting · Hemophilia A recruiting · High Grade Glioma recruiting · Geographic Atrophy recruiting · Lupus Nephritis recruiting · Breast Cancer recruiting · Metastatic Solid Tumor recruiting · and 12 more

Phase 1
First studies in people, mostly checking safety.

Multiple Myeloma 6 trials recruiting · Acute Myeloid Leukemia 2 trials recruiting · Duchenne Muscular Dystrophy recruiting · Multiple Sclerosis · B-Cell Lymphoma, Unspecified · Desmoplastic Small Round Cell Tumor · Idiopathic Pulmonary Fibrosis

After approval
Studies that follow people already taking an approved drug.

Multiple Sclerosis 2 trials recruiting · Hemophilia A 2 trials recruiting · Acute Myeloid Leukemia

Other studies
Studies with no phase listed, such as registries and natural history studies.

Multiple Sclerosis 5 trials recruiting · Spinal Muscular Atrophy 2 trials recruiting · Spinal Muscle Atrophy recruiting · Type 2 Diabetes recruiting · Hematologic Disorder recruiting · Non-Hodgkin Lymphoma, B-cell recruiting · Hemophilia A recruiting · Interstitial Lung Disease · Leber Congenital Amaurosis · Late Effects

Roche Holding AG / Genentech clinical trials

These are Roche Holding AG / Genentech trials for the rare diseases we track, from ClinicalTrials.gov. Statuses there can lag behind company news, so confirm with the study team before you plan around one.

42 trials looking for volunteers now

Looking for volunteersPhase 3Recently updatedNCT07838194

Clinical Trial of NXT007 for the Prophylactic Treatment of Hemophilia A in Infants and Children

Tests NXT007

For Hemophilia A

The purpose of this study is to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of NXT007 prophylaxis in pediatric patients aged 0 to 11 years with severe or moderate congenital hemophilia A without factor VIII inhibitors or congenital hemophilia A of any severity (severe, moderate, and mild) with inhibitors (emicizumab-naïve and treated). Patients with hemophilia A aged ≥12 to \<18 years old with a body weight of \<40 kilograms (kg) are also able to participate.

Ages 0 Years - 17 Years1 location
View full study
Looking for volunteersPhase 3Recently updatedNCT06998524

A Study to Assess the Efficacy and Safety of Emicizumab in Participants With Type 3 Von Willebrand Disease

Tests Emicizumab, von Willebrand Factor (VWF) Concentrates, Factor VIII (FVIII) Concentrates, von Willebrand Factor (VWF) and Factor VIII (FVIII) Concentrates, Bypassing Agents

For Von Willebrand Disease, Type 3

This is a Phase III, multicenter, open-label clinical study designed to evaluate the efficacy, safety, pharmacokinetics, and pharmacodynamics of emicizumab prophylaxis in participants aged 1 month and above, who have been diagnosed with Type 3 von Willebrand disease (VWD). Participants on prior standard of care (SOC) on-demand therapy will be assessed via a randomized comparison (Arm A - emicizumab prophylaxis and Arm B - continuation of SOC on-demand therapy), while participants on prior SOC prophylactic therapy (Arm C - emicizumab prophylaxis) will be assessed via intra-participant analysis with data obtained from the preceding non-interventional study (NIS), WP45335 (NCT06883240).

Ages 1 Month+30 locations
View full study
Looking for volunteersPhase 3Recently updatedNCT07555938

Cevostamab in Combination With Pomalidomide and Dexamethasone Versus Standard of Care in Participants With Previously Treated Multiple Myeloma

Tests Cevostamab, Pomalidomide, Dexamethasone, Daratumumab, Elotuzumab, Carfilzomib

For Multiple Myeloma

The purpose of this study is to assess the efficacy and safety of cevostamab in combination with pomalidomide and dexamethasone (CevosPd) versus standard of care (SOC) in participants with multiple myeloma (MM) who have received one to three prior lines of therapy and have been exposed to an anti-CD38 monoclonal antibody (mAb) and lenalidomide.

Ages 18 Years+103 locations
View full study
Looking for volunteersPhase 1/2Recently updatedNCT07226206

A Gene Therapy Study of SPK-8011QQ in Adults With Severe or Moderately Severe Hemophilia A

Tests SPK-8011QQ

For Hemophilia A

This study will assess the safety and tolerability of SPK-8011QQ in adult males with moderately severe to severe hemophilia A.

Ages 18 Years+6 locations
View full study
Looking for volunteersPhase 1Recently updatedNCT05927571

A Study Evaluating the Safety, Pharmacokinetics, and Activity of the Combination of Cevostamab and Elranatamab in Participants With Relapsed or Refractory Multiple Myeloma (R/R MM)

Tests Cevostamab, Elranatamab, Tocilizumab

For Relapsed or Refractory Multiple Myeloma

The purpose of the study is to evaluate safety and tolerability of the combination of cevostamab plus elranatamab and also determine the recommended Phase II regimen (RP2R) for the study treatment. The study consists of a safety lead-in stage, and an expansion stage.

Ages 18 Years+14 locations
View full study
Looking for volunteersRecently updatedNCT07531719

A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)

For Spinal Muscle Atrophy

This multicenter, non-interventional, prospective study with a retrospective component aims to evaluate the real-world clinical outcomes, safety profile, and motor function improvements of Risdiplam treatment in participants with Type I and Type II Spinal Muscle Atrophy over 24 months of treatment. The study will allow retrospective collection of medical history data and previous participants visits from the medical records.

Ages Up to 5 Years2 locations
View full study
Looking for volunteersPhase 3Recently updatedNCT07416604

A Clinical Study to Evaluate the Effects of NXT007 Compared to Emicizumab Prophylaxis in People With Hemophilia A

Tests NXT007, Emicizumab

For Hemophilia A

The purpose of this study is to evaluate the efficacy, safety, pharmacokinetics, and pharmacodynamics of NXT007 prophylaxis compared with emicizumab prophylaxis in people age 12 years and older with severe or moderate congenital hemophilia A without factor VIII (FVIII) inhibitors or with hemophilia A of any severity (severe, moderate, and mild) with FVIII inhibitors.

Ages 12 Years+63 locations
View full study
Looking for volunteersPhase 2Recently updatedNCT06528691

Entrectinib as a Single Agent in Upfront Therapy for Children <3 Years of Age With NTRK1/2/3 or ROS1-FUSED CNS Tumors

Tests Entrectinib, Cyclophosphamide, Etoposide, Carboplatin, G-CSF, Pegfilgrastim, Surgery

For High Grade Glioma and CNS Tumor

This clinical trial tests how well entrectinib works to treat patients less than 3 years of age with NTRK 1/2/3 or ROS1 fused, high grade glioma or other central nervous system (CNS) tumors.

Ages Up to 3 Years6 locations
View full study
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FDA-approved drugs from Roche Holding AG / Genentech

From the openFDA database. Tap a drug for side effects, dosing and help paying.

Actemra tocilizumab

For Giant Cell Arteritis, Systemic Sclerosis and Systemic Juvenile Idiopathic Arthritis. Approved Jan 8, 2010. Taken by intravenous, subcutaneous route.

Enspryng satralizumab

For Neuromyelitis Optica and Thyroid Eye Disease. Approved Aug 14, 2020. Taken by subcutaneous route.

Esbriet pirfenidone

For Idiopathic Pulmonary Fibrosis. Approved Oct 15, 2014. Taken by mouth.

Evrysdi risdiplam

For Spinal Muscular Atrophy. Approved Aug 7, 2020. Taken by mouth.

Gazyva obinutuzumab

For Lupus Nephritis. Approved Nov 1, 2013. Taken by intravenous route.

Hemlibra emicizumab

For Hemophilia A. Approved Nov 16, 2017. Taken by subcutaneous route.

Ocrevus ocrelizumab

For Multiple Sclerosis. Approved Mar 28, 2017. Taken by intravenous route.

Ocrevus Zunovo ocrelizumab and hyaluronidase

For Multiple Sclerosis. Approved Sep 13, 2024. Taken by subcutaneous route.

Piasky crovalimab

For Paroxysmal Nocturnal Hemoglobinuria. Approved Jun 20, 2024. Taken by subcutaneous route.

Pulmozyme dornase alfa

For Cystic Fibrosis. Approved Dec 30, 1993. Taken by respiratory (inhalation) route.

Rituxan rituximab

For Granulomatosis with Polyangiitis, Pemphigus Vulgaris and Hodgkin Lymphoma. Approved Nov 26, 1997. Taken by intravenous route.

Rozlytrek entrectinib

For NTRK Fusion Cancer. Approved Aug 15, 2019.

Valium diazepam

For Stiff Person Syndrome. Approved Nov 15, 1963. Taken by mouth.

Luxturna voretigene neparvovec-rzyl

For Leber Congenital Amaurosis and Retinitis Pigmentosa.

More about Roche Holding AG / Genentech

Within its broader pharmaceutical portfolio, Roche Holding AG / Genentech has active clinical trial programs and drug development efforts across 72 rare diseases, including Acute Myeloid Leukemia, Adrenocortical Carcinoma, Amyotrophic Lateral Sclerosis, Angelman Syndrome, Atypical Hemolytic Uremic Syndrome, and 67 additional rare conditions. These programs may span orphan drug designation, novel therapeutic mechanisms, and precision medicine approaches targeting the underlying causes of each disease.

The clinical trials section below shows active and recruiting rare disease studies sponsored by Roche Holding AG / Genentech, sourced live from ClinicalTrials.gov. Each trial includes its current recruitment status, study phase (Phase 1 through Phase 4), conditions under investigation, and the number of active trial sites.

The FDA-approved drugs section lists treatments that have received U.S. Food and Drug Administration approval, with brand names, generic names, approval dates, and matched rare disease indications from the openFDA database.

Roche Holding AG / Genentech is headquartered in Basel, Switzerland, founded in 1896, publicly traded under the ticker symbol RHHBY. The company maintains a dedicated rare disease division alongside its broader therapeutic portfolio, working to bring innovative treatments to patients with conditions that have historically had limited or no treatment options.

Where Roche Holding AG / Genentech trials take place

The trials above run at 3,033 study sites in 61 countries. Tap a country to see its states, cities and hospitals.

United States
1290▼
Italy
203▼
Spain
117▼
France
104▼
China
101▼
Poland
99▼
Germany
95▼
United Kingdom
92▼
Japan
82▼
Russia
74▼
Brazil
60▼
Ukraine
57▼

Rare diseases Roche Holding AG / Genentech works on

Each disease page lists every open trial, not only Roche Holding AG / Genentech's, plus approved treatments.

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a fast-growing cancer of the bone marrow in which immature white blood cells called blasts crowd out normal blood cells, causing fatigue, infections and bleeding...

How common: The National Cancer Institute's SEER program estimates 22,720 new US cases and 11,500 deaths in 2026, about 1.1% of new cancers, and 83,311 people were living with AML in 2023

Adrenocortical Carcinoma

Adrenocortical carcinoma is a rare, aggressive cancer of the adrenal cortex, the outer layer of the adrenal glands that sit on top of each kidney.

How common: About 1-2 per million people per year; approximately 600 new cases per year in the U.S

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spinal cord.

How common: About 5,000 new cases per year in the U.S.; CDC's National ALS Registry estimates about 33,000 Americans were living with ALS in 2022, a number projected to pass 36,000 by 2030

Angelman Syndrome

Angelman Syndrome is a rare neurological disorder caused by loss of function of the UBE3A gene on the maternal chromosome 15.

How common: Approximately 1 in 12,000 to 20,000 people

Atypical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare kidney disease caused by uncontrolled activation of the complement system, a part of the immune system that normally helps fight infection.

How common: Approximately 1-2 cases per million people per year; rare form of HUS accounting for 5-10% of all HUS cases

Autoimmune Hepatitis

Autoimmune Hepatitis (AIH) is a chronic liver disease characterized by persistent inflammation and progressive fibrosis of the liver due to loss of immune tolerance to hepatocyte antigens.

How common: About 16 per 100,000 people worldwide in a 2023 pooled analysis of 37 studies, with wide differences by region and a rise over time

Bullous Pemphigoid

Bullous pemphigoid is an autoimmune blistering disorder caused by autoantibodies against basement membrane proteins, particularly BP180 and BP230.

How common: Approximately 2-23 per million people per year; incidence increases sharply with age

Cholangiocarcinoma

Cholangiocarcinoma is a rare and aggressive cancer that forms in the bile ducts, the thin tubes that carry digestive fluid (bile) from the liver to the small intestine.

How common: About 8,000 new cases per year in the U.S.; rising incidence worldwide

Chronic Graft-versus-Host Disease

Chronic graft-versus-host disease is an immune-mediated complication after allogeneic stem cell or bone marrow transplant, in which donor immune cells attack the recipient's tissues.

How common: Affects 30-70% of patients who receive allogeneic hematopoietic stem cell transplant; about 14,000 Americans were living with chronic GVHD in 2016, according to a claims study funded in part by Kadmon (Bachier et al., Transplantation and Cellular Therapy, 2021)

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive genetic disorder affecting the CFTR protein, which normally regulates chloride transport.

How common: Nearly 40,000 children and adults in the U.S.; 1 in 2,500 to 3,500 births among Caucasians

Dermatomyositis

Dermatomyositis is a rare autoimmune inflammatory disease causing muscle weakness and distinctive skin rashes, particularly over joints.

How common: About 9.6 new cases per million people a year, according to NORD; juvenile-onset incidence about 0.4 cases per 100,000 children

Desmoplastic Small Round Cell Tumor

Desmoplastic small round cell tumor is a rare aggressive sarcoma characterized by EWSR1-WT1 fusion and dense desmoplasia.

How common: Fewer than 200 cases per year in the U.S.; occurs at any age but most common age 15-35

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginning in early childhood.

How common: 1 in 3,500 to 5,000 male births

Eosinophilic Esophagitis

Eosinophilic Esophagitis is a rare allergic/immune-mediated inflammatory disease of the esophagus characterized by eosinophil infiltration causing progressive narrowing and dysfunction.

How common: About 142.5 per 100,000 people in the United States, about 1 in 700 or an estimated 472,380 people, in a 2025 insurance claims study (Thel et al., Clin Gastroenterol Hepatol 2025)

Eosinophilic Granulomatosis with Polyangiitis

Eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss syndrome) is a systemic necrotizing vasculitis characterized by asthma, blood eosinophilia, and inflammation of small- and...

How common: 10 to 14 cases per million people; approximately 3,000 to 4,500 individuals in the U.S

Essential Thrombocythemia

Essential Thrombocythemia is a myeloproliferative neoplasm characterized by overproduction of platelets by bone marrow, resulting in very high platelet counts.

How common: About 1 new case per 100,000 people each year, with an estimated 30 to 60 per 100,000 living with it (NORD); average age at diagnosis is in the mid-fifties

Familial Medullary Thyroid Carcinoma

Familial medullary thyroid carcinoma is an autosomal dominant cancer predisposition syndrome caused by germline RET mutations.

How common: Near-complete penetrance by adulthood in RET mutation carriers (varies by specific codon mutation); comprises ~25% of medullary thyroid cancers

Fragile X Syndrome

Fragile X Syndrome is the most common inherited cause of intellectual disability and autism spectrum disorder.

How common: Approximately 1 in 4,000 males and 1 in 6,000 to 8,000 females

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy (FSHD) is an inherited muscular dystrophy characterized by progressive weakness of the facial, shoulder, and upper arm muscles.

How common: About 1 in 20,000 people (MedlinePlus Genetics); one of the most common hereditary muscular dystrophies

Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal or their precursors.

How common: About 6,000 new cases per year in the U.S. (American Cancer Society); true incidence may be higher as small GISTs are often incidentally discovered

Geographic Atrophy

Geographic atrophy is the advanced form of dry age-related macular degeneration, characterized by progressive loss of retinal pigment epithelium, photoreceptors, and choriocapillaris in well-defined...

How common: About 1 million people in the U.S. are estimated to have geographic atrophy, the advanced dry form of age-related macular degeneration

Giant Cell Arteritis

Giant Cell Arteritis is a rare inflammatory disease of large and medium-sized arteries, primarily affecting people over 50.

How common: Approximately 10-20 cases per 100,000 people over age 50; incidence increasing with age, peak in 8th decade

Granulomatosis with Polyangiitis

Granulomatosis with Polyangiitis is a rare autoimmune disease causing inflammation of small and medium blood vessels in the lungs, kidneys, and upper respiratory tract.

How common: An estimated 3 in 100,000 people in the United States, according to MedlinePlus Genetics

Guillain-Barré Syndrome

Guillain-Barré syndrome is a rare autoimmune neurological disorder in which the body's immune system attacks the peripheral nerves, causing rapidly progressive muscle weakness that typically starts...

How common: 1 in 60,000 people per year in the U.S. (3,000 to 6,000 new cases annually)

Hemophilia A

Hemophilia A is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor VIII.

How common: 1 in 4,000 to 5,000 males worldwide; very rare in females

Hemophilia B

Hemophilia B is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor IX.

How common: 1 in 25,000 to 33,000 males; very rare in females

Hereditary Diffuse Gastric Cancer

Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome caused by germline CDH1 mutations.

How common: Estimated at 1 in 1,000 gastric cancer cases; ~1 in 100,000 in general population

Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia is a rare genetic disorder characterized by abnormal blood vessel formation (telangiectasias) and arteriovenous malformations causing nosebleeds...

How common: Approximately 1 in 5,000 to 10,000 people

Hodgkin Lymphoma

Hodgkin lymphoma is a cancer of the lymphatic system characterized by the presence of abnormal Reed-Sternberg cells.

How common: About 8,920 new cases expected in the U.S. in 2026 (American Cancer Society); approximately 2.6 per 100,000 people

Huntington Disease

Huntington disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene.

How common: About 3-7 per 100,000 people of European ancestry, according to MedlinePlus Genetics; less common in people of Japanese, Chinese and African descent

Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis is a chronic, progressive lung disease characterized by scarring (fibrosis) of lung tissue.

How common: About 100,000 people in the U.S., with 30,000 to 40,000 new cases a year (MedlinePlus Genetics)

IgA Nephropathy

IgA nephropathy is the most common primary glomerulonephritis worldwide, caused by abnormal IgA1 antibodies depositing in the kidney's mesangium, activating complement pathways and triggering...

How common: About 2 new cases per 100,000 people each year in the U.S., and an estimated 199,000 to 208,000 Americans were living with IgA nephropathy in 2021 (Otsuka-funded study, Clinical Nephrology, 2025)

Immune Thrombocytopenia

Immune thrombocytopenia (ITP) is a rare autoimmune disorder in which the immune system destroys platelets, the blood cells that stop bleeding, and slows their production.

How common: Estimated 9 to 20 per 100,000 people; children often have a temporary form that resolves within months

Light Chain Amyloidosis

Light Chain Amyloidosis is a rare, serious blood disorder caused by plasma cells producing misfolded immunoglobulin light chains that accumulate in tissues as amyloid fibrils, progressively damaging...

How common: Approximately 600-1,000 new cases per year in the United States; median age of diagnosis is 63 years

Lupus Nephritis

Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE), in which the immune system attacks the kidneys' filters and, without treatment, can lead to kidney failure.

How common: About 21 per 100,000 people in a Minnesota population study in 2015 (Lupus Midwest Network, 2022)

Mantle Cell Lymphoma

Mantle cell lymphoma is a rare type of non-Hodgkin lymphoma that starts in B cells, a kind of white blood cell.

How common: About 1 in 200,000 people (Cleveland Clinic)

Medullary Thyroid Cancer

Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor arising from the parafollicular C cells of the thyroid gland, accounting for 2-4% of all thyroid cancers.

How common: Approximately 1,000-1,200 new cases per year in the U.S.; 2-4% of all thyroid cancers

Membranous Nephropathy

Membranous nephropathy is a rare autoimmune kidney disease where the body's own antibodies attack proteins in the kidney's filtering units (glomeruli).

How common: About 12 new cases per million people each year in the U.S.; roughly 40,000-50,000 Americans living with the disease

Mesothelioma

Mesothelioma is a rare, aggressive cancer that develops in the mesothelium, the thin layer of tissue covering most internal organs.

How common: About 3,000 new cases per year in the U.S

MOG Antibody-Associated Disease

MOG antibody-associated disease (MOGAD) is a rare autoimmune condition in which antibodies attack a protein on the myelin coating of nerves in the optic nerves, spinal cord and brain, causing...

How common: Roughly 0.5 to 3.4 people per 100,000 (Genentech); the MOG antibody is found in 40-58% of children with ADEM and in 7.4-39% of people with NMOSD who test negative for the aquaporin-4 antibody

Multiple Myeloma

Multiple myeloma is a cancer of plasma cells, the white blood cells that make antibodies.

How common: About 36,000 new US diagnoses expected in 2026 and roughly 203,000 people living with it, which puts myeloma right at the edge of the US rare disease threshold; it is 1.7% of all new cancers (NCI SEER)

Multiple Sclerosis

Multiple sclerosis is a chronic autoimmune disease where the immune system attacks the protective myelin sheath surrounding nerve fibers in the brain and spinal cord.

How common: Approximately 1 million people in the U.S.; about 1 in 300

Myasthenia Gravis

Myasthenia gravis is a chronic autoimmune neuromuscular disorder causing muscle weakness and rapid fatigue.

How common: 1 in 5,000 people

Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of blood cancers in which the bone marrow fails to produce enough healthy blood cells.

How common: 10,000 to 15,000 new cases annually in the U.S.; estimated 60,000 to 170,000 Americans living with MDS

Myelofibrosis

Myelofibrosis is a myeloproliferative neoplasm in which bone marrow develops scarring (fibrosis), leading to anemia, enlarged spleen, and abnormal blood cell counts.

How common: Approximately 0.5-1.5 cases per 100,000 people; median age of diagnosis is 65 years

Neuroendocrine Tumors

Neuroendocrine tumors (NETs) grow from hormone-making cells, most often in the small intestine, pancreas, rectum or lungs.

How common: About 244,000 people in the US were living with a neuroendocrine neoplasm, the wider group that includes NETs, in 2021, with about 8.5 new diagnoses per 100,000 people a year (Dasari et al., JAMA Network Open 2025); an earlier estimate for NETs alone was about 171,000 in 2014 (JAMA Oncology 2017)

Neurofibromatosis Type 1

Neurofibromatosis type 1 is a genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes neurofibromin, a tumor suppressor protein.

How common: 1 in 2,500 to 3,500 people in the U.S., making it one of the most common genetic conditions

Neuromyelitis Optica

Neuromyelitis Optica (NMO) is a rare inflammatory autoimmune disorder of the central nervous system characterized by recurrent attacks of optic neuritis (vision loss) and acute myelitis (spinal cord...

How common: About 1 to 2 per 100,000 people worldwide, according to MedlinePlus Genetics

Paraganglioma

Paragangliomas are rare neuroendocrine tumors arising from chromaffin tissue outside the adrenal medulla.

How common: 1 in 300,000 to 1,000,000; ~30% are hereditary

Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria is a rare, life-threatening blood disorder where complement-mediated destruction of red blood cells occurs due to acquired mutations in the PIGA gene.

How common: Estimated at 1 to 5 per million people (MedlinePlus Genetics); NORD gives 0.5 to 1.5 per million

Pemphigus Vulgaris

Pemphigus Vulgaris is a rare, potentially life-threatening autoimmune blistering disorder where the body produces antibodies against cell-to-cell adhesion molecules, causing blisters and erosions in...

How common: Approximately 0.5-3.2 cases per 100,000 people; higher incidence in certain ethnic groups (Ashkenazi Jews, Mediterranean, Indian populations)

Pheochromocytoma

Pheochromocytoma is a rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla that produces excessive catecholamines (epinephrine and norepinephrine).

How common: About 2 to 8 new cases per million people a year (National Cancer Institute)

Polycythemia Vera

Polycythemia Vera is a myeloproliferative neoplasm in which bone marrow produces too many red blood cells, leading to thick blood that carries oxygen less effectively and increases clot risk.

How common: About 44 to 57 per 100,000 people in the US, from 2 large health plans in 2008 to 2010 (Mehta et al., Leukemia and Lymphoma 2014); median age of diagnosis is 65 years

Primary Biliary Cholangitis

Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease in which the immune system mistakenly attacks the small bile ducts in the liver, leading to bile duct destruction and...

How common: About 14.6 per 100,000 people worldwide in a 2021 pooled analysis of 47 population studies, highest in North America (21.8 per 100,000) and lowest in the Asia-Pacific region (9.8 per 100,000)

Primary Central Nervous System Lymphoma

Primary central nervous system lymphoma (PCNSL) is a fast-growing lymphoma that starts in the brain, spinal cord, eyes or the membranes around them and usually stays there.

How common: About 5 new cases per million people a year in the US (Ono Pharmaceutical and Deciphera); more than half of patients are 60 or older

Primary Sclerosing Cholangitis

Primary Sclerosing Cholangitis (PSC) is a rare chronic liver disease characterized by inflammation and progressive scarring of the bile ducts, both inside and outside the liver.

How common: About 13.5 per 100,000 people in a 2024 pooled analysis of 12 population studies from North America, Europe, Asia and Oceania, with about 0.9 new cases per 100,000 people a year (Cooper et al., Inflamm Bowel Dis 2024); higher in Scandinavian countries; associated with IBD in 50-80% of PSC patients

Progressive Supranuclear Palsy

Progressive supranuclear palsy is a rare atypical Parkinsonian disorder characterized by progressive vertical supranuclear gaze palsy, postural instability, and cognitive decline.

How common: About 6 in 100,000 people worldwide, though the exact number is unknown (MedlinePlus Genetics)

Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a rare disease characterized by abnormally high blood pressure in the pulmonary arteries, causing progressive heart and lung damage.

How common: About 26 to 52 per million people in a Scottish national study, with about 7 new cases per million people each year (Peacock et al., European Respiratory Journal, 2007)

RET Fusion Cancer

RET fusion cancers are a group of rare tumors driven by chromosomal rearrangements that fuse the RET gene with a partner gene, creating an abnormal protein that drives uncontrolled cell growth.

How common: RET fusions occur in 1-2% of non-small cell lung cancers (roughly 2,300-4,600 new cases per year in the U.S.), 7-12% of papillary thyroid cancers (higher in pediatric cases), and rarely in other tumor types

Sarcoidosis

Sarcoidosis is an inflammatory disease characterized by formation of granulomas (clusters of immune cells) in multiple organs, most commonly the lungs and lymph nodes.

How common: An estimated 150,000 to 200,000 people in the United States, about 60 per 100,000, with rates that vary by ethnicity and geography (NORD)

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder where hemoglobin polymerizes under low oxygen, causing red blood cells to become rigid, sickle-shaped, and prone to hemolysis and vaso-occlusion.

How common: About 100,000 Americans with SCD; about 1 in 365 Black or African American births and 1 in 16,300 Hispanic American births

Sjögren's Syndrome

Sjögren's syndrome is a chronic autoimmune disorder in which the immune system attacks the moisture-producing exocrine glands, primarily the salivary and lacrimal (tear) glands.

How common: Estimated 1 to 4 million Americans (including undiagnosed); approximately 1 in 1,000 adults based on physician-diagnosed prevalence

Spinal Muscular Atrophy

Spinal muscular atrophy is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord, causing progressive muscle weakness and atrophy.

How common: About 1 in 10,000 births; about 1 in 50 people of European or Asian ancestry are carriers of 1 copy of the gene change

Systemic Juvenile Idiopathic Arthritis

Systemic juvenile idiopathic arthritis is a severe autoinflammatory disease characterized by daily spiking fevers, a salmon-pink rash, and joint inflammation.

How common: Accounts for 10-20% of all juvenile idiopathic arthritis cases; estimated 1 in 32,000 children in the U.S

Systemic Sclerosis

Systemic sclerosis (scleroderma) is a rare autoimmune disease in which the immune system triggers scarring (fibrosis) of the skin and internal organs while also damaging small blood vessels.

How common: About 276 per million U.S. adults in a large Detroit-area study; about 19 new cases per million adults each year

Thalassemia

Thalassemia is an inherited blood disorder where reduced or absent production of one type of hemoglobin chain causes anemia, from mild or none in carriers to severe in the major forms, where it can...

How common: About 1 in 100,000 people have symptoms of beta thalassemia, according to NORD, most often people with Mediterranean, Middle Eastern, African or Asian roots

Thrombotic Thrombocytopenic Purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening blood disorder in which small clots form in blood vessels throughout the body, using up platelets and blocking blood flow to the...

How common: Immune TTP: about 2 to 6 new cases per million people each year worldwide, and 3.43 per million per year with a documented diagnosis in a US study

Thyroid Eye Disease

Thyroid eye disease (TED) is a rare autoimmune condition in which the immune system attacks the muscles and fat behind the eyes, causing bulging eyes, double vision, pain, and in severe cases vision...

How common: About 16 in 100,000 women and 3 in 100,000 men diagnosed each year; up to half of people with Graves' disease develop some degree of TED

Turner Syndrome

Turner syndrome results from complete or partial absence of an X chromosome in females, causing short stature, gonadal dysgenesis, cardiac and renal abnormalities.

How common: 1 in 2,000 to 3,000 live female births

Von Willebrand Disease

Von Willebrand disease is the most common inherited bleeding disorder, caused by quantitative or qualitative deficiency of von Willebrand factor.

How common: 1-3% of the general population; 1 in 10,000 with clinically significant disease

Waldenström Macroglobulinemia

Waldenström Macroglobulinemia is a rare blood cancer in which malignant B-lymphocytes produce excessive amounts of a protein called macroglobulin (immunoglobulin M or IgM).

How common: Approximately 1,500 new cases per year in the United States; median age of diagnosis is 68 years

Warm Autoimmune Hemolytic Anemia

Warm autoimmune hemolytic anemia (wAIHA) is a rare autoimmune disease in which the immune system makes antibodies, usually of the IgG type, that stick to red blood cells at normal body temperature...

How common: About 1 to 3 new cases per 100,000 people each year, according to the FDA and NORD

Where to get support

Patient groups can explain a diagnosis, point you to specialists and tell you about trials before they open. Roche Holding AG / Genentech's own site is roche.com, and our help paying for treatment page lists drugmaker programs and charity funds.

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