Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
- Conditions
- Pompe Disease
- Registration Number
- NCT01409486
- Lead Sponsor
- Rambam Health Care Campus
- Brief Summary
The aim of the study is:
to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 10000
Inclusion Criteria
- New born babies born during the study period
Exclusion Criteria
- Premature babies
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel Two years
- 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 molecular mechanisms underlie Pompe disease detection via tandem mass spectrometry in newborn screening?
How does tandem mass spectrometry compare to traditional diagnostic methods for Pompe disease in terms of accuracy and cost-effectiveness?
What biomarkers are most reliable for early detection of Pompe disease using tandem mass spectrometry in Israel's population?
What adverse events are associated with newborn screening for Pompe disease using tandem mass spectrometry?
Are there any related compounds or combination therapies being developed for Pompe disease alongside early detection efforts?
Trial Locations
- Locations (1)
Rambam Health Care Campus
🇮🇱Haifa, Israel
Rambam Health Care Campus🇮🇱Haifa, IsraelHanna Mandel, Prof.Principal Investigator