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Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

NCT03424772 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2018-02-08

No results posted yet for this study

Summary

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases

Conditions

  • Intellectual Disability
  • Multiple Congenital Anomaly
  • Rare Diseases

Interventions

DIAGNOSTIC_TEST

Whole genome sequencing

WGS will be performed for the trio

Sponsors & Collaborators

  • Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

    lead OTHER

Principal Investigators

  • Yongguo Yu, MD, PhD · Specify Unaffiliated

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-18
Primary Completion
2018-12-31
Completion
2019-03-31

Countries

  • China

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 NCT03424772 on ClinicalTrials.gov