NCT00277979

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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jan 2005

Typical duration for all trials

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2005

Completed
1 year until next milestone

First Submitted

Initial submission to the registry

January 13, 2006

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 18, 2006

Completed
1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2007

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2007

Completed
Last Updated

March 16, 2012

Status Verified

December 1, 2007

Enrollment Period

2.1 years

First QC Date

January 13, 2006

Last Update Submit

March 14, 2012

Conditions

Congenital Disorders

Keywords

pediatriccardiacInfantile Pompe's Disease3D Echocardiography

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Tiffany J Riehle, MD

    Centers for Disease Control and Prevention

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER

Study Record Dates

First Submitted

January 13, 2006

First Posted

January 18, 2006

Study Start

January 1, 2005

Primary Completion

February 1, 2007

Study Completion

February 1, 2007

Last Updated

March 16, 2012

Record last verified: 2007-12