Rapid Genetic Diagnosis Employing Next Generation Sequenc... | NCT03175692

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

NCT03175692

Sponsor

National Taiwan University Hospital

Status

Unknown status

Last Update Posted

Jun 16, 2017Actual

Enrollment

150Estimated

Phase

Not provided

Conditions

Congenital Metabolic Disorder
Acute Disease

Interventions

Whole Exome Sequencing

Countries

Taiwan

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2017

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Enrolling by invitation

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 14, 2017Actual

Primary Completion Date

May 2018Estimated

Completion Date

May 2020Estimated

First Submitted Date

May 23, 2017

First Submission Date that Met QC Criteria

Jun 1, 2017

First Posted Date

Jun 5, 2017Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 15, 2017

Last Update Posted Date

Jun 16, 2017Actual

Name	Class
Ministry of Science and Technology, Taiwan	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

150Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
critical illness in infants and children		Those infants and children who has congenital metabolism disorder or acute disorder.	Diagnostic Test: Whole Exome Sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
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

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Sensitivity of whole exome sequencing in detecting causative mutations		10 weeks

Secondary Outcomes

Measure	Description	Time Frame
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

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Day

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Children and newborn patients at National Taiwan University Hospital

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Wuh-Liang Hwu	Department of Pediatrics and Medical Genetics, National Taiwan University Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
National Taiwan University Hospital		Taipei		100	Taiwan

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D008661	Metabolism, Inborn Errors
D000208	Acute Disease

Ancestor Terms

ID	Term
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D008659	Metabolic Diseases
D009750	Nutritional and Metabolic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D059472	Exome

Ancestor Terms

ID	Term
D016678	Genome
D040342	Genetic Structures
D055614	Genetic Phenomena

Browse Leaves

Not provided

Browse Branches

Not provided