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

NCT ID: NCT01409486

Last Updated: 2011-08-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

10000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-09-30

Study Completion Date

2013-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Pompe Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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Drawing blood spots from Newborns

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* New born babies born during the study period

Exclusion Criteria

* Premature babies
Minimum Eligible Age

2 Days

Maximum Eligible Age

7 Days

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Rambam Health Care Campus

OTHER

Sponsor Role lead

Responsible Party

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Rambam Health Care Campus

Locations

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Rambam Health Care Campus

Haifa, , Israel

Site Status

Countries

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Israel

Central Contacts

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Hanna Mandel, Prof.

Role: CONTACT

972-50-2062637

Mariel Kaplan, PhD

Role: CONTACT

972-48542622

Other Identifiers

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0290-09-RMB-CTIL

Identifier Type: -

Identifier Source: org_study_id

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