Congenital DisordersNCT00277979
3D Echocardiography Managing Infantile Pompe's Disease
An observational study of Congenital Disorders, run by Children's Healthcare of Atlanta.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Disorders
- How many people
- 2 participants
- Where
- No sites listed yet
- Study dates
- Jan 2005to Feb 2007
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subject with Infantile Pompe's Disease seen at Children's between Jan. and February, 2005.
Who may be able to join
- Infant seen at Children's Healthcare of Atlanta, Egleston January - February, 2005 Infantile Pompe's Disease
Who cannot join
- Those who do not meet inclusion criteria
About this study
Official title: 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.
Read the 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.
- Conditions
- Congenital Disorders
- Keywords
- pediatric, cardiac, Infantile Pompe's Disease, 3D Echocardiography
- Medical subject headings
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2006 (estimated)
- Study startJan 2005
- Primary completionFeb 2007
- Study completionFeb 2007
Why it stopped: project withdrawn
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Healthcare of Atlanta
- Sponsor type
- University, hospital or other
- Investigators
- Tiffany J Riehle, MD, Principal investigator, Centers for Disease Control and Prevention
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00277979
- Sponsor's protocol ID
- 05-058
- Status last verified
- Dec 2007
- First submitted
- 13 Jan 2006
- Last updated
- 16 Mar 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports
- ClinicalTrials.gov ID
- NCT00277979
- Acronym / sponsor ID
- 05-058
- Conditions
- Congenital Disorders
- Keywords
- pediatric, cardiac, Infantile Pompe's Disease, 3D Echocardiography
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: project withdrawn
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Children's Healthcare of AtlantaUniversity, hospital or other
- Study start
- Jan 2005
- Primary completion
- Feb 2007 (actual)
- Study completion
- Feb 2007 (actual)
- First posted
- 18 Jan 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subject with Infantile Pompe's Disease seen at Children's between Jan. and February, 2005.
Key inclusion criteria (1 listed)
- Infant seen at Children's Healthcare of Atlanta, Egleston January - February, 2005 Infantile Pompe's Disease
Key exclusion criteria (1 listed)
- Those who do not meet inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study was stopped early (reason given: project withdrawn). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tiffany J Riehle, MD principal investigator
Centers for Disease Control and Prevention
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Disorders, run by Children's Healthcare of Atlanta.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 16 Mar 2012. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: project withdrawn). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Mar 2012.