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Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Sponsor: Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Summary
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.
Official title: Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
Key Details
Gender
All
Age Range
Any - 21 Years
Study Type
OBSERVATIONAL
Enrollment
1000
Start Date
2018-02-20
Completion Date
2070-03
Last Updated
2024-11-07
Healthy Volunteers
No
Conditions
Interventions
Genetic Enrollees
Identification of new genetic diagnoses in children with multiple congenital anomalies, developmental delay, autism, seizures, intellectual disabilities, neurodegenerative disorders and metabolic illness. Samples and data will be stored in a pediatric biorepository. A subset of samples will undergo genetic/genomic analysis.
Locations (1)
Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, United States