NCT03525431

Clinical Utility of Pediatric Whole Exome Sequencing

Completed NA Results posted Last updated 18 July 2023

What this trial tests

NA trial testing Whole Exome Sequencing in Encephalopathy in 529 participants. Completed in 13 May 2022.

Timeline

1 August 2017

Primary endpoint
13 May 2022

13 May 2022

Quick facts

Lead sponsor	University of California, San Francisco
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	diagnostic
Enrollment	529
Start date	1 August 2017
Primary completion	13 May 2022
Estimated completion	13 May 2022
Sites	4 locations across United States

Drugs / interventions tested

• Whole Exome Sequencing

Conditions studied

• Encephalopathy — all drugs for Encephalopathy →
• Birth Defect — all drugs for Birth Defect →
• Intellectual Disability — all drugs for Intellectual Disability →
• Multiple Congenital Anomaly — all drugs for Multiple Congenital Anomaly →

Sponsor

University of California, San Francisco

Who can join

Under 25, any sex, with Encephalopathy or Birth Defect. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Number of Pediatric Patients With a Positive Exome Sequencing Result Primary · At the completion of data collection (follow-up visit at 6-12 months after return of results)

Number of pediatric patients with a diagnostic result among all patients where exome was performed. A positive exome sequencing result means the identification of a pathogenic or likely pathogenic gene variant to explain the child's condition. The definition of pediatric was expanded to include participants over the age of 18 if they were being followed by UCSF pediatrics department if they were patients at the pediatrics department before they were 18 years old.

Group	Value	95% CI
Whole Exome Sequencing	142

Sponsor's own description

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

Publications & conference data

4 peer-reviewed publications reference this trial (live from Europe PMC):

1. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
   Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, et al · · 2023 · cited 38× · PMID 37236975 · DOI 10.1038/s41525-023-00353-0
2. Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
   Rego S, Hoban H, Outram S, Zamora AN, et al · · 2022 · cited 11× · PMID 35396980 · DOI 10.1016/j.gim.2022.02.004
3. Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
   Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, et al · · 2024 · cited 10× · PMID 38172272 · DOI 10.1038/s41525-023-00385-6
4. Innovative strategies and nanocarrier approaches for enhancing the oral bioavailability of macromolecular therapeutics.
   Manjunath PG, Ravi NK, Sridhar SK, Nimbagal Raghavendra N. · · 2025 · PMID 41586190 · DOI 10.22038/ijbms.2025.87167.18839