Newborn Screening Assay of Pompe's Disease | NCT01758354

Studies
Newborn Screening Assay of Pompe's Disease

NCT01758354

Sponsor

National Taiwan University Hospital

Status

Completed

Last Update Posted

Jan 1, 2013Estimated

Enrollment

236,536Actual

Phase

Not Applicable

Conditions

Pompe Disease

Interventions

Pompe disease newborn screening

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

Nov 2012

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 2005

Primary Completion Date

Dec 2009Actual

Completion Date

Dec 2009Actual

First Submitted Date

Jul 9, 2008

First Submission Date that Met QC Criteria

Dec 26, 2012

First Posted Date

Jan 1, 2013Estimated

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

Dec 26, 2012

Last Update Posted Date

Jan 1, 2013Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

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

The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease

Detailed Description

DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

236,536Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Pompe disease newborn screening	Experimental	newborns will be tested if they were affected by Pompe disease	Other: Pompe disease newborn screening

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Pompe disease newborn screening	Other	DBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
detect patients with infantile onset Pompe disease		3 months

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
parents signed inform consent for this study

Exclusion Criteria:

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Whu-Liang Hwu, MD, PhD	National Taiwan University Hospital	Principal Investigator

Locations

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

Condition Browse Module

MeSH Terms

ID	Term
D006009	Glycogen Storage Disease Type II

Ancestor Terms

ID	Term
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases

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Browse Branches

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