CI

At a glance

ClinicalIndex Comparison Record
N/ACompleted· 529 enrolled
Drug / intervention
Whole Exome Sequencingother
Likely dose
Not stated in record
Structured eligibility isn't available for this trial yet — see the full criteria in the Eligibility tab below.

Standardized by ClinicalIndex from the ClinicalTrials.gov record · verify against the source.

Search/NCT03525431
NCT03525431N/ACompleted
CompareCT.gov

Genomic Sequencing to Aid Diagnosis in Pediatric and Prenatal Practice: Examining Clinical Utility, Ethical Implications, Payer Coverage, and Data Integration in a Diverse Population.

University of California, San Francisco·interventional·Posted May 15, 2018·Updated Jul 18, 2023

In Brief

A clinical study evaluating Whole Exome Sequencing for Encephalopathy and 9 related conditions. Completed, enrolled 529 participants across 4 sites.

Detailed Summary

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

Study Details

Study Typeinterventional
Allocation--
Masking--
Primary Purpose--
ConditionsEncephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
CountriesUnited States
CollaboratorsNational Human Genome Research Institute (NHGRI)

Timeline

N/ACompletedFinished
201820192020202120222023202420252026
First PostedMay 15, 2018
Enrollment StartAug 1, 2017
Primary CompletionMay 13, 2022
TodayJul 2, 2026
Enrollment to primary: 4.8 yearsPosted 8.1 years ago

Interventions

Whole Exome Sequencingother

Whole Exome Sequencing is a form of Next Generation Sequencing allowing investigators to assess the coding regions of many thousands of genes to find variants implicated in disease.