4 Recruiting Genetic Disease Observational / Diagnostic Clinical Trials

Active observational / diagnostic studies for genetic disease enrolling across the USA. Verify eligibility and contact site coordinators.

All Genetic Disease studies

Observational / Diagnostic Studies for Genetic Disease

🔵 Active, Not Recruiting Observational / Diagnostic

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

📍 Vanderbilt University Medical — Nashville, Tennessee

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🔵 Active, Not Recruiting Observational / Diagnostic

The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

📍 University of Alabama Birmingham — Birmingham, Alabama

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🔵 Active, Not Recruiting Observational / Diagnostic

Penn Medicine Biobank Return of Results Program

📍 University of Pennsylvania — Philadelphia, Pennsylvania

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🟢 Recruiting Observational / Diagnostic

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

📍 Rady Children's Hospital San Diego — San Diego, California

View Study & Checklist ➔