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3D Echocardiography Managing Infantile Pompe's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00277979
Recruitment Status : Terminated (project withdrawn)
First Posted : January 18, 2006
Last Update Posted : March 16, 2012
Information provided by:
Children's Healthcare of Atlanta

Brief 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.

Condition or disease
Congenital Disorders

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.

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Study Type : Observational
Actual Enrollment : 2 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports
Study Start Date : January 2005
Actual Primary Completion Date : February 2007
Actual Study Completion Date : February 2007

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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

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 identifier (NCT number): NCT00277979

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

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Responsible Party: Chairman, Children's Healthcare of Atlanta Institutional Review Board Identifier: NCT00277979    
Other Study ID Numbers: 05-058
First Posted: January 18, 2006    Key Record Dates
Last Update Posted: March 16, 2012
Last Verified: December 2007
Keywords provided by Children's Healthcare of Atlanta:
Infantile Pompe's Disease
3D Echocardiography
Additional relevant MeSH terms:
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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