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Trial record 9 of 198 for:    Genetic AND exome sequencing

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

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ClinicalTrials.gov Identifier: NCT03175692
Recruitment Status : Enrolling by invitation
First Posted : June 5, 2017
Last Update Posted : June 16, 2017
Sponsor:
Collaborator:
Ministry of Science and Technology, Taiwan
Information provided by (Responsible Party):
National Taiwan University Hospital

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.

Condition or disease Intervention/treatment
Congenital Metabolic Disorder Acute Disease Diagnostic Test: Whole Exome Sequencing

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
Actual Study Start Date : June 14, 2017
Estimated Primary Completion Date : May 2018
Estimated Study Completion Date : May 2020

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.




Primary Outcome Measures :
  1. Sensitivity of whole exome sequencing in detecting causative mutations [ Time Frame: 10 weeks ]

Secondary Outcome Measures :
  1. Time frame of mutation identified after receipt of the sample [ Time Frame: 10 weeks ]
  2. Percentage of mutation identified within 7 days after receipt of the sample [ Time Frame: 10 weeks ]
  3. Changes in healthcare decision after disclosure of the result [ Time Frame: 6 months ]
  4. Parents/family's attitude about exome sequencing [ Time Frame: 6 months ]

Biospecimen Retention:   Samples With DNA
Use blood or DBS to extract DNA


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children and newborn patients at National Taiwan University Hospital
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03175692


Locations
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Taiwan
National Taiwan University Hospital
Taipei, Taiwan, 100
Sponsors and Collaborators
National Taiwan University Hospital
Ministry of Science and Technology, Taiwan
Investigators
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Principal Investigator: Wuh-Liang Hwu Department of Pediatrics and Medical Genetics, National Taiwan University Hospital

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Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT03175692     History of Changes
Other Study ID Numbers: 201703073RINB
First Posted: June 5, 2017    Key Record Dates
Last Update Posted: June 16, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Critical Illness
Metabolic Diseases
Acute Disease
Metabolism, Inborn Errors
Disease Attributes
Pathologic Processes
Genetic Diseases, Inborn