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Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2024-11-07

No results posted yet for this study

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.

Conditions

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.

Sponsors & Collaborators

  • Rady Pediatric Genomics & Systems Medicine Institute

    collaborator OTHER

  • Nicklaus Children's Hospital f/k/a Miami Children's Hospital

    lead OTHER

Principal Investigators

  • Parul Jayakar, MD · Nicklaus Children's Hospital

Eligibility

Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-02-20
Primary Completion
2070-03-31
Completion
2070-03-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03458962 on ClinicalTrials.gov