Newborn Screening Assay of Pompe's Disease

National Taiwan University

Status: Completed

Conditions: Pompe Disease

Treatments: Other: Pompe disease newborn screening

Study type: Interventional

Funder types: Other

Identifiers

NCT01758354

9461700818

Details and patient eligibility

About

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

Full description

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

Enrollment: 236,536 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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236,536 participants in 1 patient group

Pompe disease newborn screening

Experimental group

Description:

newborns will be tested if they were affected by Pompe disease

Treatment:

Other: Pompe disease newborn screening