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RECRUITING
NCT03458962

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Sponsor: Nicklaus Children's Hospital f/k/a Miami Children's Hospital

View on ClinicalTrials.gov

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

Interventions

GENETIC

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