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

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.

Study Overview

• Status: Unknown
• Conditions: Acute Disease; Congenital Metabolic Disorder
• Intervention / Treatment: Diagnostic test: Whole Exome Sequencing

• Study Type: Observational
• Enrollment (Anticipated): 150

Contacts and Locations

Study Locations

• Taiwan
  • Taipei, Taiwan, 100
    • National Taiwan University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children and newborn patients at National Taiwan University Hospital

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
critical illness in infants and children; Those infants and children who has congenital metabolism disorder or acute disorder.	Diagnostic test: Whole Exome Sequencing; Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Sensitivity of whole exome sequencing in detecting causative mutations	10 weeks

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital
• Collaborators: Ministry of Science and Technology, Taiwan
• Investigators: Principal Investigator: Wuh-Liang Hwu, Department of Pediatrics and Medical Genetics, National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): June 14, 2017
• Primary Completion (Anticipated): May 1, 2018
• Study Completion (Anticipated): May 1, 2020

Study Registration Dates

• First Submitted: May 23, 2017
• First Submitted That Met QC Criteria: June 1, 2017
• First Posted (Actual): June 5, 2017

Study Record Updates

• Last Update Posted (Actual): June 16, 2017
• Last Update Submitted That Met QC Criteria: June 15, 2017
• Last Verified: May 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Genetic Diseases, Inborn; Critical Illness; Acute Disease; Metabolism, Inborn Errors; Metabolic Diseases
• Other Study ID Numbers: 201703073RINB

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No