An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive CRIM(-)( Cross- Reactive Immunologic Material) Patients With Infantile-Onset Pompe Disease

This study has been completed.
Information provided by (Responsible Party):
Genzyme, a Sanofi Company Identifier:
First received: June 17, 2008
Last updated: April 5, 2013
Last verified: April 2013

An exploratory, open-labeled study of patients with Infantile-Onset Pompe disease to evaluate the efficacy, clinical benefit and safety of prophylactic immunomodulatory regimen of Rituximab and Methotrexate prior to Myozyme (alglucosidase alfa) infusion. Eligible patients who are determined to be cross-reacting immunologic material (CRIM)-negative will be enrolled into the study, and will be followed for a minimum of 18 months on treatment or, if a patient is less than 6 months of age at the time of enrollment, until the patient is 2 years of age. Following study completion, patients may continue on commercial Myozyme treatment as prescribed by their treating physicians. To facilitate long-term data collection, patients will be asked to enroll in the Pompe Disease Registry after study completion.

Condition Intervention Phase
Pompe Disease
Glycogen Storage Disease Type II
Drug: alglucosidase alfa
Phase 4

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive, CRIM(-) Patients With Pompe Disease

Resource links provided by NLM:

Further study details as provided by Genzyme, a Sanofi Company:

Primary Outcome Measures:
  • Efficacy of a prophylactic immunomodulatory regimen given prior to first treatment with Myozyme (alglucosidase alfa), as assessed by anti-recombinant human acid α-glucosidase (rhGAA) antibody titers [ Time Frame: 18 months ] [ Designated as safety issue: No ]
  • Clinical benefit of this regimen as measured by overall survival [ Time Frame: 18 months ] [ Designated as safety issue: No ]
  • Clinical benefit of this regimen as measured by ventilator-free survival [ Time Frame: 18 months ] [ Designated as safety issue: Yes ]
  • Left ventricular mass index (LVMI) as measured by echocardiogram (ECHO) [ Time Frame: 18 months ] [ Designated as safety issue: No ]
  • Gross motor function and development assessed through the administration of the GMFM-88 (Gross Motor Function Measure) and AIMS (Alberta Infantile Motor Scale) [ Time Frame: 18 months ] [ Designated as safety issue: No ]
  • Disability index as measured by the Pompe PEDI (Evaluation of Disability Inventory) [ Time Frame: 18 months ] [ Designated as safety issue: No ]
  • Summary of Adverse Events [ Time Frame: 18 months ] [ Designated as safety issue: Yes ]

Enrollment: 4
Study Start Date: September 2009
Study Completion Date: March 2013
Primary Completion Date: March 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Myozyme® (alglucosidase alfa) Drug: alglucosidase alfa
Intravenous (IV) infusion of 20 mg/kg; qow (every other week) or optionally 20 mg/kg; qw (every week)
Other Name: Myozyme


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • The patient(and/or patient's legal guardian if patient is <18 years) must provide written informed consent prior to any study-related procedures that are performed.
  • The patient must have a confirmed diagnosis of Pompe disease defined as documented acid α-glucosidase (GAA) enzyme deficiency from any tissue source or GAA gene mutations.
  • The patient (and/or legal guardian) must have ability to comply with clinical protocol.
  • The patient has not received Myozyme (alglucosidase alfa) or any other recombinant human acid α-glucosidase therapies prior to enrollment.
  • The patient must be CRIM (-).

Exclusion Criteria:

  • The patient has a clinical condition unrelated to Pompe disease that would interfere with program assessments.
  • The patient is at risk of reactivation or is a carrier of Hepatitis B or Hepatitis C.
  • The patient is at risk of reactivation or has positive serology suggestive of active infection cytomegalovirus, Herpes simplex, JC virus, parvovirus and Epstein Barr virus.
  • The patient is at risk of reactivation of tuberculosis or has regular contact with individuals who are being actively treated for tuberculosis.
  • The patient has a major congenital abnormality.
  • The patient has used any investigational product within 30 days prior to study enrollment.
  • The patient has had or is required to have any live vaccination within one month prior to enrollment.
  Contacts and Locations
Please refer to this study by its identifier: NCT00701129

United States, District of Columbia
Washington, District of Columbia, United States
United States, Kentucky
Louisville, Kentucky, United States
United States, Michigan
Detroit, Michigan, United States
United States, North Carolina
Durham, North Carolina, United States
United States, Ohio
Cincinnati, Ohio, United States
Haifa, Israel
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme Coorporation
  More Information

No publications provided

Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00701129     History of Changes
Other Study ID Numbers: AGLU03807
Study First Received: June 17, 2008
Last Updated: April 5, 2013
Health Authority: United States: Food and Drug Administration
Israel: Ministry of Health

Keywords provided by Genzyme, a Sanofi Company:
Glycogenesis 2

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases processed this record on April 16, 2014