3D Echocardiography Managing Infantile Pompe's Disease

Congenital Disorders Clinical Trial

Official title:

Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00277979
• Other study ID #: 05-058
• Status: Terminated
• Phase: N/A
• First received: January 13, 2006
• Last updated: March 14, 2012
• Start date: January 2005
• Est. completion date: February 2007

Study information

• Verified date: December 2007
• Source: Children's Healthcare of Atlanta
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 2
• Est. completion date: February 2007
• Est. primary completion date: February 2007
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Case-Only, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Congenital Disorders
• Glycogen Storage Disease Type II

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Children's Healthcare of Atlanta