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

• Conditions: Congenital Metabolic Disorder; Acute Disease

• Registration Number: NCT03175692
• Lead Sponsor: National Taiwan University Hospital

Brief 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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2017-05
• Study First Submitted: 2017-05-23
• Study First Submitted QC: 2017-06-01
• Study First Posted: 2017-06-05
• Study Start: 2017-06-14
• Last Update Submitted: 2017-06-15
• Last Update Posted: 2017-06-16
• Primary Completion: 2018-05
• Study Completion: 2020-05

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

• Pediatric patients admitted to intensive care unit
• Infants with abnormal newborn screening result that is medical emergency

Exclusion Criteria

• Participants or parents who cannot comply with study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Sensitivity of whole exome sequencing in detecting causative mutations	10 weeks

Secondary Outcome Measures

Name	Time	Method
Percentage of mutation identified within 7 days after receipt of the sample	10 weeks
Parents/family's attitude about exome sequencing	6 months
Time frame of mutation identified after receipt of the sample	10 weeks
Changes in healthcare decision after disclosure of the result	6 months

Trial Locations

Locations (1)

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan