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

This study is not yet open for participant recruitment.
Verified August 2011 by Rambam Health Care Campus
Sponsor:
Information provided by:
Rambam Health Care Campus
ClinicalTrials.gov Identifier:
NCT01409486
First received: July 7, 2011
Last updated: August 3, 2011
Last verified: August 2011
History of Changes
  Purpose

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 Intervention
Pompe Disease
 Other: Drawing blood spots from Newborns

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

Resource links provided by NLM:

Drug Information available for: Tandem
U.S. FDA Resources

Further study details as provided by Rambam Health Care Campus:

Primary Outcome Measures:
  • Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel [ Time Frame: Two years ] [ Designated as safety issue: No ]

Estimated Enrollment: 10000
Study Start Date: September 2011
Estimated Study Completion Date: September 2013
Estimated Primary Completion Date: September 2013 (Final data collection date for primary outcome measure)
Intervention Details:
    Other: Drawing blood spots from Newborns
    Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS
  Eligibility

Ages Eligible for Study:   up to 7 Days
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: Prof. Hanna Mandel, Rambam Health Care Campus
ClinicalTrials.gov Identifier: NCT01409486     History of Changes
Other Study ID Numbers: 0290-09-RMB-CTIL
Study First Received: July 7, 2011
Last Updated: August 3, 2011
Health Authority: Israel: Ministry of Health

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

ClinicalTrials.gov processed this record on June 18, 2013