CompletedNot Applicable

Clinical Utility of Pediatric Whole Exome Sequencing

United States529 participantsStarted 2017-08-01

Plain-language summary

The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.

Age range25 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. Presenting clinical features suggestive of a genetic etiology, including intellectual disability, seizures, multiple congenital anomalies, metabolic conditions, and neurodegenerative conditions or idiopathic cerebral palsy.
✓. A minimum of one biological parent is available and willing to provide a specimen for WES, with a preference for two available parents. At least one parent consenting to WES of the child.

Number of Pediatric Patients With a Positive Exome Sequencing Result

Timeframe: At the completion of data collection (follow-up visit at 6-12 months after return of results)

NCT IDNCT03525431

SponsorUniversity of California, San Francisco

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2022-05-13

Results submitted2022-06-21