Clinical Trial: Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

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 Summary:
Sponsor: Rambam Health Care Campus

Current Primary Outcome: Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel [ Time Frame: Two years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Rambam Health Care Campus

Dates:
Date Received: July 7, 2011
Date Started: September 2011
Date Completion: September 2013
Last Updated: August 3, 2011
Last Verified: August 2011