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3D Echocardiography Managing Infantile Pompe's Disease

NCT00277979 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 2

Last updated 2012-03-16

No results posted yet for this study

Summary

Pompe's disease, also known as glycogen storage disease type II, is a genetic disorder due to deficiency of acid glucosidase (GAA), which results in lysosomal glycogen storage in various tissues.

Very low levels of GAA usually present in infancy, lead to a progressive cardiac and skeletal muscle disorder and death before age 1 year.

Most infants develop massive hypertrophic cardiomyopathy which progresses to dilated cardiomyopathy and cardiorespiratory arrest.

3D echocardiography can be a simple, non-invasive method of following cardiac disease progression in infantile Pompe's disease.

Conditions

  • Congenital Disorders

Sponsors & Collaborators

  • Children's Healthcare of Atlanta

    lead OTHER

Principal Investigators

  • Tiffany J Riehle, MD · Centers for Disease Control and Prevention

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2005-01-31
Primary Completion
2007-02-28
Completion
2007-02-28

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00277979 on ClinicalTrials.gov