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

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