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Rare Diseases clinical trials recruiting in the U.S.
33 studies for Rare Diseases are recruiting participants at sites across the United States.
A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000, affecting more than 25 million Americans.
Cities with the most studies
- Boston, MA9 studies
- Chicago, IL8 studies
- Washington, DC8 studies
- Philadelphia, PA7 studies
- Cincinnati, OH5 studies
- Los Angeles, CA5 studies
- Columbus, OH4 studies
- Nashville, TN3 studies
- Pittsburgh, PA3 studies
- Atlanta, GA3 studies
- Houston, TX3 studies
- Seattle, WA3 studies
- Rochester, MN3 studies
- St. Louis, MO3 studies
- New York City, NY3 studies
- Durham, NC3 studies
By state
- California10 studies
- Colorado3 studies
- District of Columbia3 studies
- Florida4 studies
- Georgia3 studies
- Illinois8 studies
- Maryland6 studies
- Massachusetts11 studies
- Minnesota3 studies
- Missouri4 studies
- New York3 studies
- North Carolina6 studies
- Ohio8 studies
- Pennsylvania7 studies
- Tennessee5 studies
- Texas4 studies
- Washington3 studies
Recently updated studies
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
RecruitingPhase 1
Ages 18 to 40 · All sexes · Updated Sep 29, 2026 · NCT07180355RAPA-501 Therapy for ALS
RecruitingPhase 2/3
Ages 18 and older · All sexes · Updated Sep 29, 2026 · NCT04220190Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
RecruitingObservational studyHealthy volunteers welcome
1 Month – 115 Years · All sexes · Updated Sep 22, 2026 · NCT00369421Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
RecruitingObservational studyHealthy volunteers welcome
1 Month – 100 Years · All sexes · Updated Sep 22, 2026 · NCT02543996A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
RecruitingPhase 1/2
Ages 18 to 65 · All sexes · Updated Sep 21, 2026 · NCT06525636Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
RecruitingObservational studyHealthy volunteers welcome
1 Month – 100 Years · All sexes · Updated Sep 18, 2026 · NCT02450851Caregiving Networks Across Disease Context and the Life Course
RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 100 · All sexes · Updated Sep 15, 2026 · NCT05007990Longitudinal Studies of Patient With FPDMM
RecruitingObservational studyHealthy volunteers welcome
1 Day – 100 Years · All sexes · Updated Sep 11, 2026 · NCT03854318Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946Odevixibat Pregnancy and Lactation Surveillance Program: A Study to Evaluate the Safety of Odevixibat During Pregnancy and/or Lactation
RecruitingObservational study
All ages · Women · Updated Aug 31, 2026 · NCT06258902Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy
RecruitingObservational study
All ages · Women · Updated Aug 31, 2026 · NCT07556913International Rare Brain Tumor Registry
RecruitingObservational study
Up to age 45 · All sexes · Updated Aug 7, 2026 · NCT05697874Stakeholders of Rare Diseases Informing Values In Neuroethics
RecruitingObservational study
All ages · All sexes · Updated Jul 13, 2026 · NCT07314736Evaluation of an Advanced Lower Extremity Neuroprostheses
Recruiting
Ages 21 to 75 · All sexes · Updated Jul 10, 2026 · NCT00623389A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
RecruitingObservational study
Ages 6 and older · All sexes · Updated Jul 2, 2026 · NCT07127978Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
RecruitingPhase 2
Ages 18 and older · All sexes · Updated Jun 23, 2026 · NCT07123155Baker Gordon Syndrome Natural History Study
RecruitingObservational study
Ages 0 to 99 · All sexes · Updated Jun 3, 2026 · NCT06399952UW Undiagnosed Genetic Diseases Program
RecruitingObservational study
Up to age 100 · All sexes · Updated May 29, 2026 · NCT04586075A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
RecruitingPhase 1/2
Ages 25 to 65 · All sexes · Updated May 5, 2026 · NCT06826612Direct to Patient Minimal Risk Biospecimen and Data Collection Research
RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 90 · All sexes · Updated May 5, 2026 · NCT07128966A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
RecruitingPhase 1/2
30 Months · All sexes · Updated Apr 17, 2026 · NCT04998396Gene Discovery Core, The Manton Center
RecruitingObservational study
All ages · All sexes · Updated Mar 25, 2026 · NCT02743845Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
RecruitingObservational study
All ages · All sexes · Updated Feb 17, 2026 · NCT05528744MIHRA - Patient-Rooted Insights for Shaping Myositis Science (PRISMS)
RecruitingObservational study
Ages 7 and older · All sexes · Updated Jan 28, 2026 · NCT07374107Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
RecruitingHealthy volunteers welcome
1 Day – 90 Days · All sexes · Updated Jan 27, 2026 · NCT07102966From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.