Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
NCT ID: NCT03175692
Last Updated: 2017-06-16
Study Results
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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UNKNOWN
150 participants
OBSERVATIONAL
2017-06-14
2020-05-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
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
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.
Eligibility Criteria
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Inclusion Criteria
* Infants with abnormal newborn screening result that is medical emergency
Exclusion Criteria
1 Day
ALL
No
Sponsors
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Ministry of Science and Technology, Taiwan
OTHER_GOV
National Taiwan University Hospital
OTHER
Responsible Party
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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
Countries
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Other Identifiers
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201703073RINB
Identifier Type: -
Identifier Source: org_study_id
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