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

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ClinicalTrials.gov Identifier: NCT01409486
Recruitment Status : Unknown
Verified August 2011 by Rambam Health Care Campus.
Recruitment status was:  Not yet recruiting
First Posted : August 4, 2011
Last Update Posted : August 4, 2011
Sponsor:
Information provided by:

Study Description
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.


Condition or disease Intervention/treatment
Pompe Disease Other: Drawing blood spots from Newborns

Study Design

Study Type : Observational
Estimated Enrollment : 10000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
Study Start Date : September 2011
Estimated Primary Completion Date : September 2013
Estimated Study Completion Date : September 2013


Groups and Cohorts

Intervention Details:
    Other: Drawing blood spots from Newborns
    Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS

Outcome Measures

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

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 7 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
10000 full-term newborns born in Northern Israel
Criteria

Inclusion Criteria:

  • New born babies born during the study period

Exclusion Criteria:

  • Premature babies
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01409486


Contacts
Contact: Hanna Mandel, Prof. 972-50-2062637 h_mandel@rambam.health.gov.il
Contact: Mariel Kaplan, PhD 972-48542622 m_kaplan@rambam.health.gov.il

Locations
Israel
Rambam Health Care Campus Not yet recruiting
Haifa, Israel, 31096
Principal Investigator: Hanna Mandel, Prof.         
Sponsors and Collaborators
Rambam Health Care Campus
More Information

Responsible Party: Prof. Hanna Mandel, Rambam Health Care Campus
ClinicalTrials.gov Identifier: NCT01409486     History of Changes
Other Study ID Numbers: 0290-09-RMB-CTIL
First Posted: August 4, 2011    Key Record Dates
Last Update Posted: August 4, 2011
Last Verified: August 2011

Keywords provided by Rambam Health Care Campus:
Pompe disease
Alpha glucosidase
Newborn screening
Tandem Mass Spectrometry (LC-MS-MS)
The study aims:
To establish the control mean values of alpha glucosidase activity in Dry blood spots of Newborn babies from Israel.
To include the alpha glucosidase assay in the newborn screening program in Israel

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases