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

Study Timeline

• Study First Submitted: 2011-07-07
• Status Verified: 2011-08
• Study First Submitted QC: 2011-08-03
• Last Update Submitted: 2011-08-03
• Study First Posted: 2011-08-04
• Last Update Posted: 2011-08-04
• Study Start: 2011-09
• Primary Completion: 2013-09
• Study Completion: 2013-09

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

Trial Locations

Locations (1)

Rambam Health Care Campus; 🇮🇱 Haifa, Israel