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

Rambam Health Care Campus10,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

10,000

Conditions

Pompe Disease

Interventions

Drawing blood spots from NewbornsOTHER

Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS

Eligibility

Sex: ALLMin age: 2 DaysMax age: 7 DaysHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * New born babies born during the study period Exclusion Criteria: * Premature babies

Locations (1)

Rambam Health Care Campus

Haifa, Israel

Outcomes

Primary Outcomes

Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel

Time frame: Two years

Central Contacts

Hanna Mandel, Prof.

CONTACT

972-50-2062637 h_mandel@rambam.health.gov.il

Mariel Kaplan, PhD

CONTACT

972-48542622 m_kaplan@rambam.health.gov.il

Data from ClinicalTrials.gov

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