N/A
N=529
Clinical Utility of Pediatric Whole Exome Sequencing
Encephalopathy · Birth Defect · Intellectual Disability · Multiple Congenital Anomaly · Metabolic Disease
Bottom Line
View on ClinicalTrials.gov: NCT03525431 ↗Enrolled (actual)
529
Serious AEs
0.0%
Results posted
Jul 2023
Primary outcome: Primary: Number of Pediatric Patients With a Positive Exome Sequencing Result — 142 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- N/A
- Interventions
- Whole Exome Sequencing (Diagnostic_test)
- Age
- Pediatric, Adult
- Sex
- All
- Sponsor
- University of California, San Francisco
- Primary completion
- May 2022
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Pediatric Patients With a Positive Exome Sequencing Result |
142 | — |
Summary
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
Eligibility Criteria
Inclusion Criteria
- 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.
Exclusion Criteria
- Prior WES performed for a clinical or research indication
- Lack of phenotypic indication of a likely underlying genetic etiology
- Both biological parents are unavailable.
Data sourced from ClinicalTrials.gov (NCT03525431). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.