## Protocol Section
### Identification Module
**NCT ID:** NCT00125879

**Brief Title:** Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

**Official Title:** A Long-Term Continuation Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

#### Organization Study ID Info
**ID:** AGLU02403
#### Organization
**Class:** INDUSTRY
**Full Name:** Sanofi
### Status Module
#### Completion Date
**Date:** 2006-12

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2014-02-06

**Type:** ESTIMATED

**Last Update Submit Date:** 2014-02-04

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2006-06

**Type:** ACTUAL

#### Start Date
**Date:** 2005-06

**Status Verified Date:** 2014-02

#### Study First Post Date
**Date:** 2005-08-02
**Type:** ESTIMATED
**Study First Submit Date:** 2005-08-01
**Study First Submit QC Date:** 2005-08-01
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** INDUSTRY

**Name:** Genzyme, a Sanofi Company

#### Responsible Party

**Old Name Title:** Medical Monitor

**Old Organization:** Genzyme Corporation

### Description Module

**Brief Summary:** Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term safety and efficacy of Myozyme treatment in patients with infantile-onset Pompe disease.

### Conditions Module

**Conditions:**

- Glycogen Storage Disease Type II

**Keywords:**

- Glycogen Storage Disease Type II

- GSD-II

- Pompe Disease

- Pompe Disease (Late-onset)

- Acid Maltase Deficiency Disease

- Glycogenosis 2

- Glycogen Storage Disease Type II (GSD-II)

### Design Module

#### Design Info

**Allocation:** RANDOMIZED

**Intervention Model:** SINGLE_GROUP

##### Masking Info

**Masking:** NONE

**Primary Purpose:** TREATMENT

#### Enrollment Info

**Count:** 16

**Type:** ACTUAL

**Phases:**

- PHASE2

- PHASE3

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Biological: Myozyme

**Label:** 1

**Type:** EXPERIMENTAL

### Interventions

#### Intervention 1

**Arm Group Labels:**

- 1

**Description:** 20 mg/kg qow or 40 mg/kg qow

**Name:** Myozyme

**Other Names:**

- alglucosidase alfa

**Type:** BIOLOGICAL

### Outcomes Module

#### Primary Outcomes

**Measure:** Long-term Safety and Efficacy

**Time Frame:** 52 weeks

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* The patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed
* The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol
* The patient must have completed Protocol AGLU01602.

Exclusion Criteria:

* Patient has experienced any unmanageable adverse event (AE) in Protocol AGLU01602 due to Myozyme that would preclude continuing treatment with Myozyme

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Birmingham

**Country:** United States

**Facility:** University of Alabama

**State:** Alabama

**Zip:** 35233

**Location 2:**

**City:** Gainesville

**Country:** United States

**Facility:** Shands Hospital at the University of Florida

**State:** Florida

**Zip:** 32610

**Location 3:**

**City:** Miami

**Country:** United States

**Facility:** Miami Children's Hospital

**State:** Florida

**Zip:** 33155

**Location 4:**

**City:** Decatur

**Country:** United States

**Facility:** Emory University Medical Genetics

**State:** Georgia

**Zip:** 30033

**Location 5:**

**City:** Durham

**Country:** United States

**Facility:** Duke University Medical Center

**State:** North Carolina

**Zip:** 27710

**Location 6:**

**City:** Cincinnati

**Country:** United States

**Facility:** Children's Hospital Medical Center

**State:** Ohio

**Zip:** 45229

**Location 7:**

**City:** Amiens

**Country:** France

**Facility:** CHU Amiens

**Zip:** 80054

**Location 8:**

**City:** Caen

**Country:** France

**Facility:** CHU Cote de Nacre

**Zip:** 14033

**Location 9:**

**City:** Mainz

**Country:** Germany

**Facility:** Universitats-Kinderklinik Mainz

**Zip:** 55131

**Location 10:**

**City:** Haifa

**Country:** Israel

**Facility:** Rambam Medical Center

**Zip:** 35254

**Location 11:**

**City:** Monza

**Country:** Italy

**Facility:** San Gerardo Hospital

**Zip:** 20052

**Location 12:**

**City:** Rotterdam

**Country:** Netherlands

**Facility:** Erasmus MC University

**Zip:** 3015 GJ

**Location 13:**

**City:** Hua-lien

**Country:** Taiwan

**Facility:** Tzu-Chi General Hospital

**Zip:** 970

**Location 14:**

**City:** Tainan

**Country:** Taiwan

**Facility:** Chi-Mei Medical Center Dept of Pediatrics

**Zip:** 710

#### Overall Officials

**Official 1:**

**Affiliation:** Genzyme, a Sanofi Company

**Name:** Medical Monitor

**Role:** STUDY_DIRECTOR

### References Module

#### References

**Citation:** Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.

**PMID:** 19775921

## 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: D000002239

- Term: Carbohydrate Metabolism, Inborn Errors

- ID: D000016464

- Term: Lysosomal Storage Diseases

- ID: D000008659

- Term: Metabolic Diseases

- ID: D000010335

- Term: Pathologic Processes

### Condition Browse Module - Browse Branches

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: All

- Name: All Conditions

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M9114

- Name: Glycogen Storage Disease

- Relevance: HIGH

- As Found: Glycogen Storage Disease

- ID: M9115

- Name: Glycogen Storage Disease Type II

- Relevance: HIGH

- As Found: Glycogen Storage Disease Type II

- ID: M6879

- Name: Deficiency Diseases

- 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: Glycogen Storage Disease Type II

### Condition Browse Module - Meshes

- ID: D000006009

- Term: Glycogen Storage Disease Type II

- ID: D000006008

- Term: Glycogen Storage Disease

- ID: D000004194

- Term: Disease

### Misc Info Module

- Version Holder: 2024-05-24
