Newborn Screening Assay of Pompe's Disease

National Taiwan University Hospital236,536 enrolled

Overview

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

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

Study Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

236,536

Conditions

Pompe Disease

Interventions

Pompe disease newborn screeningOTHER

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.

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital * parents signed inform consent for this study Exclusion Criteria: \-

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

detect patients with infantile onset Pompe disease

Time frame: 3 months

Data from ClinicalTrials.gov

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