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Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children

NCT03175692 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2017-06-16

No results posted yet for this study

Summary

Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.

Conditions

  • Congenital Metabolic Disorder
  • Acute Disease

Interventions

DIAGNOSTIC_TEST

Whole Exome Sequencing

Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.

Sponsors & Collaborators

  • Ministry of Science and Technology, Taiwan

    collaborator OTHER_GOV

  • National Taiwan University Hospital

    lead OTHER

Principal Investigators

  • Wuh-Liang Hwu · Department of Pediatrics and Medical Genetics, National Taiwan University Hospital

Eligibility

Min Age
1 Day
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-06-14
Primary Completion
2018-05-31
Completion
2020-05-31

Countries

  • Taiwan

Study Locations

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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 NCT03175692 on ClinicalTrials.gov