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Clinical Utility of Pediatric Whole Exome Sequencing

NCT03525431 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 529

Last updated 2023-07-18

Study results available
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Summary

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

Conditions

  • Encephalopathy
  • Birth Defect
  • Intellectual Disability
  • Multiple Congenital Anomaly
  • Metabolic Disease
  • Epilepsy
  • Neuro-Degenerative Disease
  • Cerebral Palsy
  • Developmental Delay
  • Developmental Defect

Interventions

DIAGNOSTIC_TEST

Whole Exome Sequencing

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.

Sponsors & Collaborators

Principal Investigators

  • Pui-Yan Kwok, MD/PhD · University of California, San Francisco

  • Barbara Koenig, PhD · University of California, San Francisco

  • Mary Norton, MD · University of California, San Francisco

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
25 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-08-01
Primary Completion
2022-05-13
Completion
2022-05-13
FDA Device
Yes

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03525431 on ClinicalTrials.gov