rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

NCT00053573 | Completed Phase 1

• 1 other identifier: AGLU01702
• Study Type: interventional
• Target: 20
• Locations: 4 countries
• Sites: 6

Brief Summary

Glycogen Storage Disease Type II ("GSD-II"; also known as Pompe disease) 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 GSD-II, 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 GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Conditions

Glycogen Storage Disease Type II; Pompe Disease; Acid Maltase Deficiency Disease; Glycogenosis 2

Keywords

Glycogen Storage Disease Type II; GSD-II; Pompe Disease

Outcome Measures

Primary Outcomes (4)

• Evaluate the safety of Myozyme

  52 weeks

• Determine proportion of patients alive over the course of treatment

  52 weeks

• PK profile of MZ

  52 weeks

• PD profile of MZ

  52 weeks

Study Arms (1)

1

EXPERIMENTAL

Biological: Myozyme

Interventions

Myozyme BIOLOGICAL

20 mg/kg to 40 mg/kg qow

Also known as: Alglucosidase alfa

1

Eligibility Criteria

• Age: 6 Months - 36 Months
• 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 a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age
• The patient is greater than 6 months old and less than or equal to 36 months old at the time of 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:

• Signs and symptoms of cardiac failure and an ejection fraction less than 40%
• Major congenital abnormality
• Clinically significant organic disease (with the exception of symptoms relating to GSD-II), 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 (6)

University of Florida College of Medicine

Gainesville, Florida, 32610, 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

Pediatrique Hopital de Brousse

Lyon, France

Location

Rambam Medical Center

Haifa, 31096, Israel

Location

Royal Manchester Children's Hospital

Manchester, M27 4 HA, 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 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: January 31, 2003
• First Posted: February 3, 2003
• Study Start: February 1, 2003
• Primary Completion: July 1, 2006
• Study Completion: November 1, 2006
• Last Updated: February 5, 2014

Record last verified: 2014-02

Locations

FR (1); IL (1); GB (1); US (3)