- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03175692
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
June 15, 2017 updated by: National Taiwan University Hospital
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
Intervention / Treatment
Study Type
Observational
Enrollment (Anticipated)
150
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
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Taipei, Taiwan, 100
- National Taiwan University Hospital
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
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.
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Using next generation sequencing to analysis patient's whole exome.
To explore the pathogenic gene variation.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Sensitivity of whole exome sequencing in detecting causative mutations
Time Frame: 10 weeks
|
10 weeks
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Time frame of mutation identified after receipt of the sample
Time Frame: 10 weeks
|
10 weeks
|
Percentage of mutation identified within 7 days after receipt of the sample
Time Frame: 10 weeks
|
10 weeks
|
Changes in healthcare decision after disclosure of the result
Time Frame: 6 months
|
6 months
|
Parents/family's attitude about exome sequencing
Time Frame: 6 months
|
6 months
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Collaborators
Investigators
- Principal Investigator: Wuh-Liang Hwu, Department of Pediatrics and Medical Genetics, National Taiwan University Hospital
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
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
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
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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