MedTrace Logo

Rapid Whole Genome Sequencing Study

NCT03385876 · Status: ENROLLING_BY_INVITATION · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100000

Last updated 2021-12-23

No results posted yet for this study

Summary

Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

Conditions

Interventions

GENETIC

Genomic sequencing and molecular diagnostic results, if any

Samples will be stored in the pediatric genomic biorepository. A subset of samples will undergo genetic/genomic analysis.

Sponsors & Collaborators

  • Rady Pediatric Genomics & Systems Medicine Institute

    lead OTHER

Principal Investigators

  • David Dimmock, MD · Rady Pediatric Genomics & Systems Medicine Institute

  • Stephen Kingsmore · Rady Pediatric Genomics & Systems Medicine Institute

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-08-29
Primary Completion
2050-12-31
Completion
2050-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

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 NCT03385876 on ClinicalTrials.gov