Skip to main content
OpenTrials
Completed

NCT Number: NCT01758354

Newborn Screening Assay of Pompe's Disease

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

National Taiwan University Hospital

Taipei, Taiwan

About this study

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

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

-

Treatment and study plan

Pompe disease newborn screening

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.

Primary outcomes

  1. detect patients with infantile onset Pompe disease

    Time frame: 3 months

Sponsors and collaborators

Lead sponsor

National Taiwan University Hospital

Other

Registry information

Important dates

Study start
2005
Primary completion
2009
Study completion
2009
First posted
Jan 1, 2013
Registry last updated
Jan 1, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.