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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

By state

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 · NCT07180355

RAPA-501 Therapy for ALS

RecruitingPhase 2/3
Ages 18 and older · All sexes · Updated Sep 29, 2026 · NCT04220190

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

RecruitingObservational studyHealthy volunteers welcome
1 Month – 115 Years · All sexes · Updated Sep 22, 2026 · NCT00369421

Human 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 · NCT02543996

A 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 · NCT06525636

Clinical 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 · NCT02450851

Caregiving Networks Across Disease Context and the Life Course

RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 100 · All sexes · Updated Sep 15, 2026 · NCT05007990

Longitudinal Studies of Patient With FPDMM

RecruitingObservational studyHealthy volunteers welcome
1 Day – 100 Years · All sexes · Updated Sep 11, 2026 · NCT03854318

Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study

RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946

Odevixibat 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 · NCT06258902

Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy

RecruitingObservational study
All ages · Women · Updated Aug 31, 2026 · NCT07556913

International Rare Brain Tumor Registry

RecruitingObservational study
Up to age 45 · All sexes · Updated Aug 7, 2026 · NCT05697874

Stakeholders of Rare Diseases Informing Values In Neuroethics

RecruitingObservational study
All ages · All sexes · Updated Jul 13, 2026 · NCT07314736

Evaluation of an Advanced Lower Extremity Neuroprostheses

Recruiting
Ages 21 to 75 · All sexes · Updated Jul 10, 2026 · NCT00623389

A 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 · NCT07127978

Study 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 · NCT07123155

Baker Gordon Syndrome Natural History Study

RecruitingObservational study
Ages 0 to 99 · All sexes · Updated Jun 3, 2026 · NCT06399952

UW Undiagnosed Genetic Diseases Program

RecruitingObservational study
Up to age 100 · All sexes · Updated May 29, 2026 · NCT04586075

A 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 · NCT06826612

Direct to Patient Minimal Risk Biospecimen and Data Collection Research

RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 90 · All sexes · Updated May 5, 2026 · NCT07128966

A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)

RecruitingPhase 1/2
30 Months · All sexes · Updated Apr 17, 2026 · NCT04998396

Gene Discovery Core, The Manton Center

RecruitingObservational study
All ages · All sexes · Updated Mar 25, 2026 · NCT02743845

Delineating 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 · NCT05528744

MIHRA - Patient-Rooted Insights for Shaping Myositis Science (PRISMS)

RecruitingObservational study
Ages 7 and older · All sexes · Updated Jan 28, 2026 · NCT07374107

Genetic 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 · NCT07102966

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.