Recent rare disease FDA decisionsAll decisions →
Approved Sep 30Camzyos (mavacamten)Obstructive hypertrophic cardiomyopathy, adolescentsApproved Sep 28Emcitate (tiratricol)MCT8 deficiencyApproved Sep 25Zilurgisertib (Atebrioz)Fibrodysplasia ossificans progressiva (FOP)Approved Sep 25Gazyva (obinutuzumab)Idiopathic nephrotic syndromeApproved Sep 23Lirafugratinib (Lyrfigtu)Cholangiocarcinoma (FGFR2 fusion)Rare disease trials opening to new patients
Studies that started recruiting again or added locations in the last 30 days.
Now recruitingAmyotrophic Lateral Sclerosis
Acamprosate in C9orf72 Hexanucleotide Repeat Expansion Amyotrophic Lateral Sclerosis (ACALS)
National Institute of Neurological Disorders and Stroke (NINDS) · Oct 7 · NCT07204977 ↗
Now recruitingFabry Disease
Anderson-Fabry Disease Fitness Improvement Training
General University Hospital, Prague · Sep 23 · NCT07495410 ↗
Now recruitingRetinitis Pigmentosa
A Phase 1/2 Study in Healthy Volunteers and Participants With Autosomal Dominant Retinitis Pigmentosa (RHO-adRP)
Octant, Inc. · Sep 18 · NCT07408232 ↗
Now recruitingMultiple Sclerosis
Cannabis (THC vs. CBD) in Multiple Sclerosis
University of Calgary · Sep 13 · NCT06261489 ↗
Most new trial sites by condition
Number of trials that added a location. Tap a condition to see them.
Rare disease news explained
Plain-language stories from News and Guides on the decisions and trials above.
All rare disease trial and FDA updates
Every change picked up from ClinicalTrials.gov and the FDA, newest first. A trial appears only when its own listed conditions name the disease.
Thursday, October 8
Phase
Duchenne Muscular Dystrophy · Moved from N/A to Phase 2
Evaluating VM100 Nutritional Supplement for Improving Quality of Life in Duchenne Muscular Dystrophy Patients · University of Florida · NCT07766980 ↗
New sites
Chronic Graft-versus-Host Disease · Added 5 new sites: Denver, Colorado, Detroit, Michigan, Nashville, Tennessee and 2 more
Observational Study for Patients at Risk for Chronic Graft-Versus-Host Disease · Incyte Corporation · NCT05919511 ↗
New sites
Chronic Graft-versus-Host Disease · Added 5 new sites: Atlanta, Georgia, Boston, Massachusetts, Toronto, Canada and 2 more
A Study of Belumosudil in Children With Chronic Graft Versus Host Disease (schoolROCK) · Sanofi · NCT07116031 ↗
New sites
Chronic Graft-versus-Host Disease · Added 2 new sites: Pittsburgh, Pennsylvania, Salamanca, Spain
A Study to Evaluate Axatilimab and Corticosteroids as Initial Treatment for Chronic Graft-Versus-Host Disease · Incyte Corporation · NCT06585774 ↗
Enrollment
Chronic Graft-versus-Host Disease · Target enrollment decreased from 700 to 539
A Long-term Extension Study of PCI-32765 (Ibrutinib) · Janssen Research & Development, LLC · NCT01804686 ↗
New sites
Common Variable Immunodeficiency · Added 1 new site: Atlanta, Georgia
Study of IgPro20 to Prevent Infection in People With Multiple Myeloma and Hypogammaglobulinemia · Memorial Sloan Kettering Cancer Center · NCT06976476 ↗
New sites
Cholangiocarcinoma · Added 1 new site: Columbus, Ohio
A Phase II Study of Pemigatinib Plus Durvalumab in Previously Treated Advanced Intrahepatic Cholangiocarcinoma Patients With FGFR-2 Fusion or Rearrangement · Mehmet Akce · NCT06728410 ↗
Phase
Cholangiocarcinoma · Moved from Phase 3 to N/A
Tissue Adhesive Glue Modified Cyanoacrylate (Glubran® 2) in Soft Pancreas · Minia University · NCT07155525 ↗
Enrollment
Cholangiocarcinoma · Target enrollment increased from 272 to 426
A Study of PHST001 in Advanced Solid Tumors · Pheast Therapeutics · NCT06840886 ↗
New sites
C3 Glomerulopathy · Added 2 new sites: Hollywood, Florida, Orangeburg, South Carolina
A Phase 2 Study to Evaluate the Safety, PD, PK, and Clinical Activity of ADX-097 in Participants With IgAN, LN or C3G · Akebia Therapeutics · NCT06419205 ↗
Wednesday, October 7
New sites
ATTR Amyloidosis (Transthyretin Amyloidosis) · Added 5 new sites: Toulouse, France, Hiroshima, Japan, Utrecht, Netherlands and 2 more
A Research Study to Look at Long-term Treatment With a Medicine Called NNC6019-0001 for People Who Have Heart Failure Due to Transthyretin Amyloidosis · Novo Nordisk A/S · NCT06260709 ↗
Now recruiting
Amyotrophic Lateral Sclerosis · Now recruiting (was Active Not Recruiting)
Acamprosate in C9orf72 Hexanucleotide Repeat Expansion Amyotrophic Lateral Sclerosis (ACALS) · National Institute of Neurological Disorders and Stroke (NINDS) · NCT07204977 ↗
New sites
Alpha-1 Antitrypsin Deficiency · Added 1 new site: Birmingham, United Kingdom
A Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients With Alpha-1 Antitrypsin Deficiency (AATD) · Beam Therapeutics Inc. · NCT06389877 ↗
Enrollment
Alpha-1 Antitrypsin Deficiency · Target enrollment increased from 106 to 192
A Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients With Alpha-1 Antitrypsin Deficiency (AATD) · Beam Therapeutics Inc. · NCT06389877 ↗
New sites
Alpha-1 Antitrypsin Deficiency · Added 4 new sites: Tübingen, Germany, Leiden, Netherlands, Auckland, New Zealand and 1 more
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD) · AIRNA Corporation · NCT07431112 ↗
Tuesday, October 6
New sites
Wilson Disease · Added 1 new site: New Haven, Connecticut
A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) · Prime Medicine, Inc. · NCT07748403 ↗
New sites
Turner Syndrome · Added 7 new sites: Washington D.C., District of Columbia, Cincinnati, Ohio, Salt Lake City, Utah and 4 more
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders · Ascendis Pharma A/S · NCT07221851 ↗
Monday, October 5
New sites
Sickle Cell Disease · Added 1 new site: San Francisco, California
A Phase 1b, Open-Label Study of DISC-3405 in Participants With Sickle Cell Disease (SCD) · Disc Medicine, Inc · NCT07187973 ↗
Enrollment
Progressive Supranuclear Palsy · Target enrollment increased from 10 to 19
Art Therapy in Progressive Supranuclear Palsy · Vanderbilt University Medical Center · NCT06588673 ↗
New sites
Thalassemia · Added 1 new site: Atlanta, Georgia
A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT) · Agios Pharmaceuticals, Inc. · NCT07506863 ↗
New sites
Thalassemia · Added 1 new site: Atlanta, Georgia
A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With α- or β-Non-Transfusion-Dependent Thalassemia · Agios Pharmaceuticals, Inc. · NCT07517133 ↗
New sites
Systemic Sclerosis · Added 2 new sites: Seoul, South Korea, Seoul, South Korea
A Study of KITE-363 in Participants With Refractory Autoimmune Diseases · Kite, A Gilead Company · NCT07038447 ↗
New sites
Stargardt Disease · Added 2 new sites: Los Angeles, California, Oslo, Norway
A Study of AAVB-039 in Participants With Stargardt Disease (STGD1) · AAVantgarde Bio Srl · NCT07161544 ↗
New sites
Spinal Muscular Atrophy · Added 2 new sites: Palo Alto, California, Beijing, China
A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety in Participants Aged 15 to 60 Years With Spinal Muscular Atrophy (SMA) Who Are Either New to SMA Treatment or Were Previously Treated With Risdiplam · Biogen · NCT07444476 ↗
New sites
Sjögren's Syndrome · Added 7 new sites: Boston, Massachusetts, Potsdam, New York, Sherbrooke, Canada and 4 more
Two Arm, Double-blind, Phase III Study Assessing Efficacy and Safety of Ianalumab Versus Placebo, in Participants With Sjögren's Disease With High Symptom Burden · Novartis Pharmaceuticals · NCT07621809 ↗
Sjögren's is not rare; Trial Friend includes it because it is underdiagnosed, long neglected by drug development, and its pipeline overlaps rare autoimmune disease research.
New sites
Sickle Cell Disease · Added 1 new site: Saint-Denis, France
Pharmacokinetics, Efficacy and Safety of Twice Daily Dosing Regimen of Hydroxycarbamide Dispersible Tablets in Children With Sickle Cell Disease · Theravia · NCT06578507 ↗
New sites
Sickle Cell Disease · Added 1 new site: Eldoret, Kenya
A Study to Investigate the Efficacy and Safety of Crizanlizumab (5 mg/kg) Compared With Placebo in Adolescent and Adult Sickle Cell Disease Patients Who Experience Frequent Vaso-Occlusive Crises (SPARKLE) · Novartis Pharmaceuticals · NCT06439082 ↗
New sites
Short Bowel Syndrome · Added 2 new sites: Pittsburgh, Pennsylvania, Skawina, Poland
Efficacy And Safety Evaluation of Glepaglutide in Treatment of SBS · Zealand Pharma · NCT07197944 ↗
Enrollment
Sarcoidosis · Target enrollment decreased from 94 to 32
Study of Multiple-Ascending-Dose Study of XTMAB-16 in Patients With Pulmonary Sarcoidosis With or Without Extrapulmonary Manifestations · Xentria, Inc. · NCT05890729 ↗
New sites
Rett Syndrome · Added 9 new sites: Philadelphia, Pennsylvania, Seattle, Washington, Bron, France and 6 more
A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome · UCB BIOSCIENCES, Inc. · NCT07503444 ↗
Sunday, October 4
New sites
Progressive Familial Intrahepatic Cholestasis · Added 1 new site: Seoul, South Korea
A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in South Korea · Ipsen · NCT07185919 ↗
New sites
Primary Sclerosing Cholangitis · Added 218 new sites: Phoenix, Arizona, La Jolla, California, Los Angeles, California and 215 more
A Study to Assess How Well and Safely Elafibranor Works in Adult Participants With Primary Sclerosing Cholangitis · Ipsen · NCT07387549 ↗
New sites
Primary Biliary Cholangitis · Added 12 new sites: San Antonio, Texas, Barranquilla, Colombia, Cali, Colombia and 9 more
A Long-Term Study of Elafibranor in Adult Participants With Primary Biliary Cholangitis · Ipsen · NCT06016842 ↗
New sites
Polycythemia Vera · Added 9 new sites: Los Angeles, California, Adelaide, Australia, Clayton, Australia and 6 more
A Phase 1 Study of PRT12396 in Participants With Select Myeloproliferative Neoplasms · Prelude Therapeutics Incorporated · NCT07469891 ↗
New sites
Polycythemia Vera · Added 15 new sites: Stuart, Florida, Bethesda, Maryland, Tyler, Texas and 12 more
A Phase 3 Study of Pelabresib (DAK539) and Ruxolitinib in Myelofibrosis (MF) · Novartis Pharmaceuticals · NCT07357727 ↗
New sites
Pheochromocytoma · Added 1 new site: Dundee, United Kingdom
HTL0039732 in Participants With Advanced Solid Tumours · Cancer Research UK · NCT05944237 ↗
New sites
Phenylketonuria · Added 1 new site: Gdansk, Poland
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria · Agios Pharmaceuticals, Inc. · NCT07241234 ↗
New sites
Phelan-McDermid Syndrome · Added 1 new site: Columbus, Ohio
A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome · Neuren Pharmaceuticals Limited · NCT07281079 ↗
New sites
Paroxysmal Nocturnal Hemoglobinuria · Added 1 new site: São Paulo, Brazil
A Study in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) to Evaluate How Safe Long-term Treatment With Pozelimab + Cemdisiran Combination Therapy is and How Well it Works · Regeneron Pharmaceuticals · NCT05744921 ↗
New sites
Noonan Syndrome · Added 7 new sites: Washington D.C., District of Columbia, Cincinnati, Ohio, Salt Lake City, Utah and 4 more
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders · Ascendis Pharma A/S · NCT07221851 ↗