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Rare Diseases clinical trials in Massachusetts
11 studies for Rare Diseases are looking for participants at sites in Massachusetts.
Cities in Massachusetts
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
- Massachusetts General Hospital, Boston
- Boston Children s Hospital, Boston
- Brigham and Women's Hospital, Boston
- and 1 more
RecruitingObservational studyHealthy volunteers welcome
1 Month – 100 Years · All sexes · Updated Oct 2, 2026 · NCT02450851RAPA-501 Therapy for ALS
- Massachusetts General Hospital, Boston
RecruitingPhase 2/3
Ages 18 and older · All sexes · Updated Sep 29, 2026 · NCT04220190A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
- Boston Children's Hospital, Boston
- University of Massachusetts Chan Medical School, Worcester
RecruitingObservational study
Ages 6 and older · All sexes · Updated Jul 2, 2026 · NCT07127978Direct to Patient Minimal Risk Biospecimen and Data Collection Research
- Joined Bio, Lexington
RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 90 · All sexes · Updated May 5, 2026 · NCT07128966A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
- Beth Israel Deaconess Medical Center, Boston
RecruitingPhase 1/2
Ages 25 to 65 · All sexes · Updated May 5, 2026 · NCT06826612A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
- Massachusetts General Hospital (MGH); Center for Rare Neurological Diseases (CRND), Boston
RecruitingPhase 1/2
30 Months · All sexes · Updated Apr 17, 2026 · NCT04998396Gene Discovery Core, The Manton Center
- Boston Children's Hospital, Boston
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
- Boston Children's Hospital, Boston
RecruitingObservational study
All ages · All sexes · Updated Feb 17, 2026 · NCT05528744The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis
- Massachusetts General Hospital, Boston
RecruitingPhase 2
Ages 12 and older · All sexes · Updated Jul 1, 2025 · NCT04372615A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
- Sanguine Biosciences, Waltham
RecruitingObservational studyHealthy volunteers welcome
Ages 18 to 89 · All sexes · Updated Dec 6, 2024 · NCT05794217Epilepsy Learning Healthcare System (ELHS)
- Partners - Massachusetts General Hospital Epilepsy Service (MGH)/ Partners - Brigham and Women's (BWH), Boston
- Brigham & Women's Hospital, Boston
RecruitingObservational study
All ages · All sexes · Updated Aug 30, 2024 · NCT06265103From ClinicalTrials.gov, data retrieved Oct 5, 2026. Each study sets its own eligibility; the study team decides who can join.