## Protocol Section
### Identification Module
**NCT ID:** NCT00277979

**Brief Title:** 3D Echocardiography Managing Infantile Pompe's Disease

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

#### Organization Study ID Info
**ID:** 05-058
#### Organization
**Class:** OTHER
**Full Name:** Children's Healthcare of Atlanta
### Status Module
#### Completion Date
**Date:** 2007-02

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2012-03-16

**Type:** ESTIMATED

**Last Update Submit Date:** 2012-03-14

**Overall Status:** TERMINATED

#### Primary Completion Date
**Date:** 2007-02

**Type:** ACTUAL

#### Start Date
**Date:** 2005-01

**Status Verified Date:** 2007-12

#### Study First Post Date
**Date:** 2006-01-18
**Type:** ESTIMATED
**Study First Submit Date:** 2006-01-13
**Study First Submit QC Date:** 2006-01-13
**Why Stopped:** project withdrawn
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Children's Healthcare of Atlanta

#### Responsible Party

**Old Name Title:** Chairman

**Old Organization:** Children's Healthcare of Atlanta Institutional Review Board

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**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.

**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 Module

**Conditions:**

- Congenital Disorders

**Keywords:**

- pediatric

- cardiac

- Infantile Pompe's Disease

- 3D Echocardiography

### Design Module

#### Design Info

**Observational Model:** CASE_ONLY

**Time Perspective:** RETROSPECTIVE

#### Enrollment Info

**Count:** 2

**Type:** ACTUAL

**Study Type:** OBSERVATIONAL

### Eligibility Module

**Eligibility Criteria:** 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

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

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

### Contacts Locations Module

#### Overall Officials

**Official 1:**

**Affiliation:** Centers for Disease Control and Prevention

**Name:** Tiffany J Riehle, MD

**Role:** PRINCIPAL_INVESTIGATOR

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000020140

- Term: Lysosomal Storage Diseases, Nervous System

- ID: D000020739

- Term: Brain Diseases, Metabolic, Inborn

- ID: D000001928

- Term: Brain Diseases, Metabolic

- ID: D000001927

- Term: Brain Diseases

- ID: D000002493

- Term: Central Nervous System Diseases

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000008661

- Term: Metabolism, Inborn Errors

- ID: D000030342

- Term: Genetic Diseases, Inborn

- ID: D000006008

- Term: Glycogen Storage Disease

- ID: D000002239

- Term: Carbohydrate Metabolism, Inborn Errors

- ID: D000016464

- Term: Lysosomal Storage Diseases

- ID: D000008659

- Term: Metabolic Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: All

- Name: All Conditions

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M9115

- Name: Glycogen Storage Disease Type II

- Relevance: HIGH

- As Found: Pompe Disease

- ID: M9114

- Name: Glycogen Storage Disease

- Relevance: LOW

- As Found: Unknown

- ID: M18871

- Name: Lysosomal Storage Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5204

- Name: Brain Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5205

- Name: Brain Diseases, Metabolic

- Relevance: LOW

- As Found: Unknown

- ID: M22498

- Name: Brain Diseases, Metabolic, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M5742

- Name: Central Nervous System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M11641

- Name: Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M5498

- Name: Carbohydrate Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M11639

- Name: Metabolic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: T2562

- Name: Glycogen Storage Disease Type 2

- Relevance: HIGH

- As Found: Pompe Disease

### Condition Browse Module - Meshes

- ID: D000006009

- Term: Glycogen Storage Disease Type II

### Misc Info Module

- Version Holder: 2024-05-24
