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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
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
RecruitingPhase 1
- The Children's Hospital of Philadelphia (CHOP), Philadelphia
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
RecruitingObservational studyHealthy volunteers welcome
- Children's Hospital of Philadelphia, Philadelphia
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
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
RecruitingPhase 1/2
- University of Pennsylvania, Philadelphia
The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis
RecruitingPhase 2
- University of Pennsylvania, Philadelphia
Epilepsy Learning Healthcare System (ELHS)
RecruitingObservational study
- Children's Hospital of Philadelphia (CHOP), Philadelphia
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
- Boston, MA9 studies
- Washington, DC8 studies
- Chicago, IL8 studies
- Los Angeles, CA5 studies
- Cincinnati, OH5 studies
- Columbus, OH4 studies
- New York City, NY3 studies
- Houston, TX3 studies
- Nashville, TN3 studies
- Seattle, WA3 studies
- Rochester, MN3 studies
- St. Louis, MO3 studies
Other studies in Philadelphia
- Cancer (all types)59 studies
- Breast Cancer56 studies
- Non-Small Cell Lung Cancer51 studies
- Metastatic Cancer46 studies
- Prostate Cancer44 studies
- Colorectal Cancer44 studies
- Ovarian Cancer44 studies
- Lung Cancer36 studies
- Acute Myeloid Leukemia34 studies
- Heart Failure31 studies
- Endometrial Cancer28 studies
- Depression26 studies
From ClinicalTrials.gov, data retrieved Oct 6, 2026. Each study sets its own eligibility; the study team decides who can join.