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Genetic Disorders clinical trials in Philadelphia, PA

9 studies for Genetic Disorders 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 Nov 3, 2026 · NCT02450851

Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia

RecruitingPhase 2/3
  • Children's Hospital of Philadelphia, Philadelphia
  • Nemours Children's Health, Wilmington · 25 mi away
Ages 2 to 17 · All sexes · Updated Oct 22, 2026 · NCT07441876

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

RecruitingPhase 2
  • Children's Hospital of Philadelphia, Philadelphia
6 Months – 70 Years · All sexes · Updated Oct 13, 2026 · NCT03301038

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

Rett Syndrome Registry

RecruitingObservational study
  • Children's Hospital of Philadelphia, Philadelphia
Ages 0 to 99 · All sexes · Updated Jun 30, 2026 · NCT05432349

ARPKD Database Study

RecruitingObservational study
  • Children's Hospital of Philadelphia, Philadelphia
Up to age 18 · All sexes · Updated Jun 15, 2026 · NCT01401998

A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study

RecruitingPhase 1/2
  • The Children's Hospital of Philadelphia (CHOP), Philadelphia
Ages 1 and older · All sexes · Updated Mar 23, 2026 · NCT05130437

Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia

RecruitingPhase 1/2
  • Children's Hospital of Philadelphia (CHOP), Philadelphia
All ages · All sexes · Updated Jan 22, 2026 · NCT04159103

STXBP1 and SYNGAP1 Related Disorders Natural History Study

RecruitingObservational study
  • The Children's Hospital of Philadelphia, Philadelphia
All ages · All sexes · Updated Oct 29, 2025 · NCT06555965

About Genetic Disorders

Genetic disorders are conditions caused by changes, or variants, in one or more genes. They can happen before birth or during your lifetime. Learn the types.

More about Genetic Disorders on MedlinePlus

Genetic Disorders trials in other cities

Other studies in Philadelphia

From ClinicalTrials.gov, data retrieved Nov 15, 2026. Each study sets its own eligibility; the study team decides who can join.