Newborn Screening Assay of Pompe's Disease

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01758354

Enrollment

236536

Registered

2013-01-01

Start date

2005-09-30

Completion date

2009-12-31

Last updated

2013-01-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease

Keywords

Pompe disease, alpha glucosidase deficiency

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.

Interventions

OTHERPompe 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.

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

SCREENING

Masking

NONE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

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

Exclusion criteria

Design outcomes

Primary

Measure	Time frame
detect patients with infantile onset Pompe disease	3 months

Countries

Taiwan

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026