Clinical Utility of Pediatric Whole Exome Sequencing
Completed · Not applicable
Conditions studied: Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
In brief
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
Key facts
- Study ID
- NCT03525431
- Run by
- University of California, San Francisco
- People needed
- 529
- Starts
- 2017-08-01
- Expected to finish
- 2022-05-13
- Last updated by the study team
- 2023-07-18
Who can join
Age: any, up to 25. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
- Pediatric patients must have had at least one prior genetics appointment or evaluation 5. Pediatric patients may have had a single nucleotide polymorphism (SNP) array or oligonucleotide array that did not provide a diagnosis.
- Even though this study is for pediatric patients, maximum age limit was increased to 25, if patients fulfilling the above criteria were being followed by Pediatrics Department since they were younger than 18.
You may not qualify if…
- Prior WES performed for a clinical or research indication
- Lack of phenotypic indication of a likely underlying genetic etiology
- Both biological parents are unavailable.
Where it is running
- UCSF Fresno — Fresno, California, United States
- UCSF Benioff Children's Hospital Oakland — Oakland, California, United States
- Zuckerberg San Francisco General Hospital — San Francisco, California, United States
- Benioff Children's Hospital Mission Bay — San Francisco, California, United States
Full record on ClinicalTrials.gov
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