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3D Echocardiography Managing Infantile Pompe's Disease

This study has been terminated.
(project withdrawn)
Sponsor:
Information provided by:
Children's Healthcare of Atlanta
ClinicalTrials.gov Identifier:
NCT00277979
First received: January 13, 2006
Last updated: March 14, 2012
Last verified: December 2007

January 13, 2006
March 14, 2012
January 2005
February 2007   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00277979 on ClinicalTrials.gov Archive Site
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3D Echocardiography Managing Infantile Pompe's Disease
Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports

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.

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.

Observational
Observational Model: Case-Only
Time Perspective: Retrospective
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Non-Probability Sample

Subject with Infantile Pompe's Disease seen at Children's between Jan. and February, 2005.

Congenital Disorders
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Terminated
2
February 2007
February 2007   (final data collection date for primary outcome measure)

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
Both
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Contact information is only displayed when the study is recruiting subjects
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NCT00277979
05-058
No
Chairman, Children's Healthcare of Atlanta Institutional Review Board
Children's Healthcare of Atlanta
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Principal Investigator: Tiffany J Riehle, MD Centers for Disease Control and Prevention
Children's Healthcare of Atlanta
December 2007

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP