Genetic Disease Clinical Trials in Philadelphia, Pennsylvania
4 recruitingPhiladelphia, Pennsylvania
Showing 1–4 of 4 trials
Recruiting
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Genetic Disease
National Human Genome Research Institute (NHGRI)20,000 enrolled33 locationsNCT02450851
Recruiting
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Genetic DiseaseSYNGAP1-Related Intellectual DisabilitySTXBP1 Encephalopathy With Epilepsy
Children's Hospital of Philadelphia600 enrolled5 locationsNCT06555965
Recruiting
Phase 2
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Genetic DiseaseIdiopathic Infantile Hypercalcaemia - Severe FormHypercalcemia, Idiopathic, of Infancy+3 more
Children's Hospital of Philadelphia60 enrolled1 locationNCT03301038
Recruiting
Rett Syndrome Registry
Genetic DiseaseNeurologic DisorderNervous System Diseases+7 more
International Rett Syndrome Foundation3,000 enrolled18 locationsNCT05432349