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3D Echocardiography Managing Infantile Pompe's Disease

This study has been terminated.
(project withdrawn)
Information provided by:
Children's Healthcare of Atlanta Identifier:
First received: January 13, 2006
Last updated: March 14, 2012
Last verified: December 2007

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.

Congenital Disorders

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports

Resource links provided by NLM:

Further study details as provided by Children's Healthcare of Atlanta:

Enrollment: 2
Study Start Date: January 2005
Study Completion Date: February 2007
Primary Completion Date: February 2007 (Final data collection date for primary outcome measure)
Detailed Description:

We report the utilization of real-time 3D echocardiography and new in-line software to calculate cardiac mass, volume and function in two cases of infantile Pompe's Disease. Furthermore, the multi-dimension cine loop showed the severity of cavity obliteration during the cardiac cycle.

We present 2 cases seen at our institution between January - February, 2005 in infants ages 1 and 5 months, both with cardiac signs as initial presentation. The younger infant had cardiomegaly since birth and was hospitalized briefly for respiratory distress at 1 month. The older infant, diagnosed at 4 months with hypertrophic cardiomyopathy, was hospitalized after cardiac arrest one month later. Both children had various tests done during the course of diagnosis and treatment, including GAA enzyme assay, cardiac catheterization, endomyocardial biopsy, developmental assessment, genetic evaluation, EKG, CXR and echocardiography.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subject with Infantile Pompe's Disease seen at Children's between Jan. and February, 2005.

Inclusion Criteria:

  • Infant seen at Children's Healthcare of Atlanta, Egleston January - February, 2005 Infantile Pompe's Disease

Exclusion Criteria:

  • Those who do not meet inclusion criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00277979

Sponsors and Collaborators
Children's Healthcare of Atlanta
Principal Investigator: Tiffany J Riehle, MD Centers for Disease Control and Prevention
  More Information

Responsible Party: Chairman, Children's Healthcare of Atlanta Institutional Review Board Identifier: NCT00277979     History of Changes
Other Study ID Numbers: 05-058
Study First Received: January 13, 2006
Last Updated: March 14, 2012

Keywords provided by Children's Healthcare of Atlanta:
Infantile Pompe's Disease
3D Echocardiography

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 processed this record on September 20, 2017