Newborn Screening Assay of Pompe's Disease

Not Applicable

Completed

• Conditions: Pompe Disease
• Interventions: Other: Pompe disease newborn screening

• Registration Number: NCT01758354
• Lead Sponsor: National Taiwan University Hospital

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.

Study Timeline

• Study Start: 2005-09
• Study First Submitted: 2008-07-09
• Primary Completion: 2009-12
• Study Completion: 2009-12
• Status Verified: 2012-11
• Study First Submitted QC: 2012-12-26
• Last Update Submitted: 2012-12-26
• Study First Posted: 2013-01-01
• Last Update Posted: 2013-01-01

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 236536

Inclusion Criteria

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

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Exclusion Criteria

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Pompe disease newborn screening	Pompe disease newborn screening	newborns will be tested if they were affected by Pompe disease

Primary Outcome Measures

Name	Time	Method
detect patients with infantile onset Pompe disease	3 months

Trial Locations

Locations (1)

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan