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

NCT03175692 | Unknown

• 1 other identifier: 201703073RINB
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Metabolic Disorder; Acute Disease

Outcome Measures

Primary Outcomes (1)

• Sensitivity of whole exome sequencing in detecting causative mutations

  10 weeks

Secondary Outcomes (4)

• 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

Study Arms (1)

critical illness in infants and children

Those infants and children who has congenital metabolism disorder or acute disorder.

Diagnostic Test: Whole Exome Sequencing

Interventions

Whole Exome Sequencing DIAGNOSTIC_TEST

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

critical illness in infants and children

Eligibility Criteria

• Age: 1 Day+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children and newborn patients at National Taiwan University Hospital

You may qualify if:

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

You may not qualify if:

• Participants or parents who cannot comply with study

Sponsors & Collaborators

• National Taiwan University Hospital: lead
• Ministry of Science and Technology, Taiwan: collaborator

Study Sites (1)

National Taiwan University Hospital

Taipei, 100, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

Use blood or DBS to extract DNA

MeSH Terms

Conditions

Metabolism, Inborn Errors; Acute Disease

Interventions

Exome

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Genome; Genetic Structures; Genetic Phenomena

Study Officials

• Wuh-Liang Hwu

  Department of Pediatrics and Medical Genetics, National Taiwan University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 23, 2017
• First Posted: June 5, 2017
• Study Start: June 14, 2017
• Primary Completion: May 1, 2018
• Study Completion: May 1, 2020
• Last Updated: June 16, 2017

Record last verified: 2017-05

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)