Newborn Screening Assay of Pompe's Disease

NCT ID: NCT01758354

Last Updated: 2013-01-01

Study Results

Results pending

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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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

236536 participants

Study Classification

INTERVENTIONAL

Study Start Date

2005-09-30

Study Completion Date

2009-12-31

Brief Summary

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

Detailed Description

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

Conditions

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Pompe Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Pompe disease newborn screening

newborns will be tested if they were affected by Pompe disease

Group Type EXPERIMENTAL

Pompe disease newborn screening

Intervention Type 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.

Interventions

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Pompe disease newborn screening

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.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

\-
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Whu-Liang Hwu, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

National Taiwan University Hospital

Locations

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National Taiwan University Hospital

Taipei, , Taiwan

Site Status

Countries

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Taiwan

Other Identifiers

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9461700818

Identifier Type: -

Identifier Source: org_study_id

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