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

NCT ID: NCT03175692

Last Updated: 2017-06-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-06-14

Study Completion Date

2020-05-31

Brief Summary

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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

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Conditions

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Congenital Metabolic Disorder Acute Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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critical illness in infants and children

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

Whole Exome Sequencing

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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Whole Exome Sequencing

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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

1 Day

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Ministry of Science and Technology, Taiwan

OTHER_GOV

Sponsor Role collaborator

National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Wuh-Liang Hwu

Role: PRINCIPAL_INVESTIGATOR

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital

Locations

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National Taiwan University Hospital

Taipei, , Taiwan

Site Status

Countries

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Taiwan

Other Identifiers

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201703073RINB

Identifier Type: -

Identifier Source: org_study_id

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