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Rare Diseases clinical trials in Philadelphia, PA

7 studies for Rare Diseases are looking for participants at sites in and around Philadelphia (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
  • University of Pennsylvania, Philadelphia
  • Children's Hospital of Philadelphia, Philadelphia
1 Month – 100 Years · All sexes · Updated Oct 2, 2026 · NCT02450851

A Study of SGT-212 Gene Therapy in Friedreich's Ataxia

RecruitingPhase 1
  • The Children's Hospital of Philadelphia (CHOP), Philadelphia
Ages 18 to 40 · All sexes · Updated Sep 29, 2026 · NCT07180355

Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study

RecruitingObservational studyHealthy volunteers welcome
  • Children's Hospital of Philadelphia, Philadelphia
All ages · All sexes · Updated Sep 1, 2026 · NCT06016946

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

RecruitingPhase 2
  • University of Pennsylvania, Philadelphia
Ages 18 and older · All sexes · Updated Jun 23, 2026 · NCT07123155

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

RecruitingPhase 1/2
  • University of Pennsylvania, Philadelphia
Ages 25 to 65 · All sexes · Updated May 5, 2026 · NCT06826612

The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis

RecruitingPhase 2
  • University of Pennsylvania, Philadelphia
Ages 12 and older · All sexes · Updated Jul 1, 2025 · NCT04372615

Epilepsy Learning Healthcare System (ELHS)

RecruitingObservational study
  • Children's Hospital of Philadelphia (CHOP), Philadelphia
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 Philadelphia

From ClinicalTrials.gov, data retrieved Oct 6, 2026. Each study sets its own eligibility; the study team decides who can join.