A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

NCT00059280 | Completed Phase 2

• 1 other identifier: AGLU01602
• Study Type: interventional
• Target: 16
• Locations: 5 countries
• Sites: 8

Brief Summary

Pompe disease (also known as glycogen storage disease type II, "GSD-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. This study is being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are less than or equal to 6 months old will be studied.

Conditions

Glycogen Storage Disease Type II

Keywords

Pompe disease; Glycogen storage disease type II; GSD-II; Acid maltase deficiency disease; Glycogenosis 2

Outcome Measures

Primary Outcomes (4)

• Evaluate the safety profile of MZ

  52 weeks

• To estimate the proportion of patients treated w/ MZ who were alive and free of ventilator support at 12 months of age; compared to historical cohort

  52 weeks

• Determine PK/PD profile of MZ

  52 weeks

• Determine effect of different doses of MZ on safety and efficacy

  52 weeks

Study Arms (1)

1

EXPERIMENTAL

Biological: Myozyme

Interventions

Myozyme BIOLOGICAL

20 mg/kg qow or 40mg/kg qow

Also known as: Alglucosidase alfa

1

Eligibility Criteria

• Age: Up to 26 Weeks
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed;
• The patient must have clinical symptoms (documented in his or her medical record) of infantile-onset Pompe disease. In addition, the patient must have: a. an endogenous GAA activity less than 1% of the mean of the normal range as assessed in cultured skin fibroblasts; AND b. cardiomyopathy (LVMI greater than 65 g/m2) by echocardiography;
• The patient must be no older than 26 weeks and 0 days, when he/she receives the first dose of rhGAA;
• The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol.

You may not qualify if:

• Symptoms of respiratory insufficiency, including: a. Oxygen saturation less than 90% in room air as measured by pulse oximetry; OR b. venous PCO2 greater than 55 mmHg on room air OR arterial PCO2 greater than 40 mmHg on room air; c. any ventilator use at the time of enrollment;
• Major congenital abnormality;
• Clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival;
• Use of any investigational product within 30 days prior to study enrollment;
• Received enzyme replacement therapy with GAA from any source.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (8)

University of Florida College of Medicine

Gainesville, Florida, 32610-00266, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

University of Utah Medical Center

Salt Lake City, Utah, 84132, United States

Location

Pediatrique Hopital deBrousse

Lyon, France

Location

Rambam Medical Center

Haifa, 31096, Israel

Location

National Taiwan University Hospital

Taipei, 100, Taiwan

Location

Royal Manchester Children's Hospital

Manchester, United Kingdom

Location

Related Publications (1)

• 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

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: FACTORIAL
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: April 22, 2003
• First Posted: April 23, 2003
• Study Start: April 1, 2003
• Primary Completion: June 1, 2005
• Study Completion: September 1, 2005
• Last Updated: February 5, 2014

Record last verified: 2006-07

Locations

TW (1); US (4); IL (1); GB (1); FR (1)