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Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry — LC-MS-MS  

Pompe Disease Clinical Trial

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

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01409486
Study type Observational
Source Rambam Health Care Campus
Contact Hanna Mandel, Prof.
Phone 972-50-2062637
Email h_mandel@rambam.health.gov.il
Status Not yet recruiting
Phase N/A
Start date September 2011
Completion date September 2013
View Details
See also
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Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
Completed NCT02363153 - Diet and Exercise in Pompe Disease N/A
Completed NCT01410890 - Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Phase 4