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Newborn Screening Assay of Pompe's Disease

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital
ClinicalTrials.gov Identifier:
NCT01758354
First received: July 9, 2008
Last updated: December 26, 2012
Last verified: November 2012
History of Changes
  Purpose

The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease


Condition Intervention
Pompe Disease
 Other: Pompe disease newborn screening

Study Type: Interventional
Study Design: Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
Official Title: Newborn Screening Assay of Pompe's Disease

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by National Taiwan University Hospital:

Primary Outcome Measures:
  • detect patients with infantile onset Pompe disease [ Time Frame: 3 months ] [ Designated as safety issue: No ]

Enrollment: 236536
Study Start Date: September 2005
Study Completion Date: December 2009
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Pompe disease newborn screening
newborns will be tested if they were affected by Pompe disease
 Other: Pompe disease newborn screening
DBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy.

Detailed Description:

DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
  • parents signed inform consent for this study

Exclusion Criteria:

-

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01758354

Locations
Taiwan
National Taiwan University Hospital
Taipei, Taiwan
Sponsors and Collaborators
National Taiwan University Hospital
Investigators
Principal Investigator: Whu-Liang Hwu, MD, PhD National Taiwan University Hospital
  More Information

No publications provided

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT01758354     History of Changes
Other Study ID Numbers: 9461700818
Study First Received: July 9, 2008
Last Updated: December 26, 2012
Health Authority: Taiwan: Department of Health

Keywords provided by National Taiwan University Hospital:
Pompe disease
alpha glucosidase deficiency

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 May 19, 2013