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Genetic Disorders clinical trials in Pennsylvania

11 studies for Genetic Disorders are looking for participants at sites in Pennsylvania.

Cities in Pennsylvania

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

  • University of Pittsburgh, Pittsburgh
RecruitingObservational studyHealthy volunteers welcome
2 Months – 115 Years · All sexes · Updated Nov 12, 2026 · NCT00001373

Helix Research Network

  • St. Luke's University Health Network (DNAanswers), Bethlehem
  • WellSpan Health (The Gene Health Project), York
RecruitingObservational studyHealthy volunteers welcome
Ages 18 and older · All sexes · Updated Nov 12, 2026 · NCT06057181

Clinical 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 Nov 3, 2026 · NCT02450851

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

  • Children's Hospital of Philadelphia, Philadelphia
RecruitingPhase 2/3
Ages 2 to 17 · All sexes · Updated Oct 22, 2026 · NCT07441876

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

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

Friedreich 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 · NCT06016946

Rett Syndrome Registry

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

ARPKD Database Study

  • Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational study
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

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

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

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

STXBP1 and SYNGAP1 Related Disorders Natural History Study

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

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