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Newborn Screening Assay of Pompe's Disease

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ClinicalTrials.gov Identifier: NCT01758354
Recruitment Status : Completed
First Posted : January 1, 2013
Last Update Posted : January 1, 2013
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital

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

Condition or disease Intervention/treatment Phase
Pompe Disease Other: Pompe disease newborn screening Not Applicable

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.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 236536 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Newborn Screening Assay of Pompe's Disease
Study Start Date : September 2005
Actual Primary Completion Date : December 2009
Actual Study Completion Date : December 2009


Arm Intervention/treatment
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.



Primary Outcome Measures :
  1. detect patients with infantile onset Pompe disease [ Time Frame: 3 months ]


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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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:


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): 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

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT01758354     History of Changes
Other Study ID Numbers: 9461700818
First Posted: January 1, 2013    Key Record Dates
Last Update Posted: January 1, 2013
Last Verified: November 2012

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