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

Acute Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT03175692
• Other study ID #: 201703073RINB
• Status: Enrolling by invitation
• Phase: N/A
• First received: May 23, 2017
• Last updated: June 15, 2017
• Start date: June 14, 2017
• Est. completion date: May 2020

Study information

• Verified date: May 2017
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 150
• Est. completion date: May 2020
• Est. primary completion date: May 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Acute Disease
• Congenital Metabolic Disorder
• Critical Illness
• Metabolic Diseases
• Metabolism, Inborn Errors

Intervention

Diagnostic Test:
• Whole Exome Sequencing
Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.

Locations

Country	Name	City	State
Taiwan	National Taiwan University Hospital	Taipei

Sponsors (2)

Lead Sponsor	Collaborator
National Taiwan University Hospital	Ministry of Science and Technology, Taiwan

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sensitivity of whole exome sequencing in detecting causative mutations		10 weeks
Secondary	Time frame of mutation identified after receipt of the sample		10 weeks
Secondary	Percentage of mutation identified within 7 days after receipt of the sample		10 weeks
Secondary	Changes in healthcare decision after disclosure of the result		6 months
Secondary	Parents/family's attitude about exome sequencing		6 months