Trials / Completed
CompletedNCT01758354
Newborn Screening Assay of Pompe's Disease
- Status
- Completed
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 236,536 (actual)
- Sponsor
- National Taiwan University Hospital · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Accepted
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| OTHER | Pompe 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. |
Timeline
- Start date
- 2005-09-01
- Primary completion
- 2009-12-01
- Completion
- 2009-12-01
- First posted
- 2013-01-01
- Last updated
- 2013-01-01
Locations
1 site across 1 country: Taiwan
Source: ClinicalTrials.gov record NCT01758354. Inclusion in this directory is not an endorsement.