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Rare Diseases clinical trials in Pennsylvania
7 studies for Rare Diseases are looking for participants at sites in Pennsylvania.
Cities in Pennsylvania
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
- The Children's Hospital of Philadelphia (CHOP), Philadelphia
RecruitingPhase 1
Ages 18 to 40 · All sexes · Updated Sep 29, 2026 · NCT07180355Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
- University of Pennsylvania, Philadelphia
- Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational studyHealthy volunteers welcome
1 Month – 100 Years · All sexes · Updated Sep 18, 2026 · NCT02450851Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
- Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational studyHealthy volunteers welcome
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
- University of Pennsylvania, Philadelphia
- University of Pittsburgh School of Medicine, Pittsburgh
RecruitingPhase 2
Ages 18 and older · All sexes · Updated Jun 23, 2026 · NCT07123155A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
- University of Pennsylvania, Philadelphia
- University of Pittsburg, Pittsburgh
RecruitingPhase 1/2
Ages 25 to 65 · All sexes · Updated May 5, 2026 · NCT06826612The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis
- University of Pennsylvania, Philadelphia
- University of Pittsburgh, Pittsburgh
RecruitingPhase 2
Ages 12 and older · All sexes · Updated Jul 1, 2025 · NCT04372615Epilepsy Learning Healthcare System (ELHS)
- Penn State Hershey, Hershey
- Children's Hospital of Philadelphia (CHOP), Philadelphia
RecruitingObservational study
All ages · All sexes · Updated Aug 30, 2024 · NCT06265103From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.