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

R

Rambam Health Care Campus

Status

Unknown

Conditions

Pompe Disease

Treatments

Other: Drawing blood spots from Newborns

Study type

Observational

Funder types

Other

Identifiers

NCT01409486
0290-09-RMB-CTIL

Details and patient eligibility

About

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.

Enrollment

10,000 estimated patients

Sex

All

Ages

2 to 7 days old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

New born babies born during the study period

Exclusion criteria

Premature babies

Trial contacts and locations

0

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Central trial contact

Mariel Kaplan, PhD; Hanna Mandel, Prof.

Data sourced from clinicaltrials.gov

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