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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
RAPA-501 Therapy for ALS
- Massachusetts General Hospital, Boston
RecruitingPhase 2/3
Ages 18 and older · All sexes · Updated Sep 29, 2026 · NCT04220190Clinical 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 Sep 18, 2026 · NCT02450851A 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 2, 2026. Each study sets its own eligibility; the study team decides who can join.