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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
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 Sep 24, 2026 · NCT07441876Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
- University of Pittsburgh, Pittsburgh
RecruitingObservational studyHealthy volunteers welcome
2 Months – 115 Years · All sexes · Updated Sep 22, 2026 · NCT00001373Clinical 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 · NCT06016946Rett Syndrome Registry
- Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational study
Ages 0 to 99 · All sexes · Updated Jun 30, 2026 · NCT05432349Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
- Children's Hospital of Philadelphia, Philadelphia
RecruitingPhase 2
6 Months – 65 Years · All sexes · Updated Jun 22, 2026 · NCT03301038ARPKD Database Study
- Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational study
Up to age 18 · All sexes · Updated Jun 15, 2026 · NCT01401998A 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 · NCT05130437Helix 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 Mar 23, 2026 · NCT06057181Open-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 · NCT04159103STXBP1 and SYNGAP1 Related Disorders Natural History Study
- The Children's Hospital of Philadelphia, Philadelphia
RecruitingObservational study
All ages · All sexes · Updated Oct 29, 2025 · NCT06555965From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.