Newborn Screening Assay of Pompe's Disease
Not Applicable
Completed
- Conditions
- Pompe Disease
- 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.
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
Exclusion Criteria
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method detect patients with infantile onset Pompe disease 3 months
- Secondary Outcome Measures
Name Time Method
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What are the molecular mechanisms of acid alpha-glucosidase (GAA) deficiency in Pompe disease pathogenesis?
How does the newborn screening assay for Pompe disease compare to standard-of-care diagnostic methods in terms of sensitivity and specificity?
What biomarkers are associated with low GAA activity in Pompe disease patients and how do they influence patient stratification?
What are the known adverse events of enzyme replacement therapy for Pompe disease and how are they managed in clinical practice?
What are the current developments in gene therapy and small molecule chaperones as potential treatments for Pompe disease?
Trial Locations
- Locations (1)
National Taiwan University Hospital
🇨🇳Taipei, Taiwan
National Taiwan University Hospital🇨🇳Taipei, Taiwan