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Rare Diseases clinical trials in Boston, MA

9 studies for Rare Diseases are looking for participants at sites in and around Boston (within about 30 miles). Open a study to see who can join and how to contact the study team.

Recruiting for a study here? Feature it at the top of this page — $99 for 30 days →

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

RecruitingObservational studyHealthy volunteers welcome
  • Massachusetts General Hospital, Boston
  • Boston Children s Hospital, Boston
  • Brigham and Women's Hospital, Boston
  • and 1 more
1 Month – 100 Years · All sexes · Updated Oct 2, 2026 · NCT02450851

RAPA-501 Therapy for ALS

RecruitingPhase 2/3
  • Massachusetts General Hospital, Boston
Ages 18 and older · All sexes · Updated Sep 29, 2026 · NCT04220190

A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy

RecruitingObservational study
  • Boston Children's Hospital, Boston
Ages 6 and older · All sexes · Updated Jul 2, 2026 · NCT07127978

A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease

RecruitingPhase 1/2
  • Beth Israel Deaconess Medical Center, Boston
Ages 25 to 65 · All sexes · Updated May 5, 2026 · NCT06826612

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

RecruitingPhase 1/2
  • Massachusetts General Hospital (MGH); Center for Rare Neurological Diseases (CRND), Boston
30 Months · All sexes · Updated Apr 17, 2026 · NCT04998396

Gene Discovery Core, The Manton Center

RecruitingObservational study
  • Boston Children's Hospital, Boston
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
  • Boston Children's Hospital, Boston
All ages · All sexes · Updated Feb 17, 2026 · NCT05528744

The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis

RecruitingPhase 2
  • Massachusetts General Hospital, Boston
Ages 12 and older · All sexes · Updated Jul 1, 2025 · NCT04372615

Epilepsy Learning Healthcare System (ELHS)

RecruitingObservational study
  • Partners - Massachusetts General Hospital Epilepsy Service (MGH)/ Partners - Brigham and Women's (BWH), Boston
  • Brigham & Women's Hospital, Boston
All ages · All sexes · Updated Aug 30, 2024 · NCT06265103

About Rare Diseases

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.

More about Rare Diseases on MedlinePlus

Rare Diseases trials in other cities

Other studies in Boston

From ClinicalTrials.gov, data retrieved Oct 5, 2026. Each study sets its own eligibility; the study team decides who can join.