An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-Naive CRIM (-) Patients With Infantile-Onset Pompe Disease

This study is currently recruiting participants.

Verified by Genzyme, March 2008

Sponsored by:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00701129

Purpose

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 infusion.

Condition	Intervention	Phase
Pompe Disease Glycogen Storage Disease Type II	Drug: Myozyme	Phase IV

Genetics Home Reference related topics: Pompe disease

Drug Information available for: Alglucosidase Alfa

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Non-Randomized, Open Label, Single Group Assignment, Safety/Efficacy Study
Official Title:	An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-Naive CRIM (-) Patients With Infantile-Onset Pompe Disease

Further study details as provided by Genzyme:

Primary Outcome Measures:

Evaluate the efficacy a prophylactic immunomodulatory regimen given prior to first Myozyme infusion [ Time Frame: 18 months ] [ Designated as safety issue: No ]
Evaluate the clinical benefit of this regimen. [ Time Frame: 18 months ] [ Designated as safety issue: No ]
Evaluate the safety of this regimen [ Time Frame: 18 months ] [ Designated as safety issue: No ]

Estimated Enrollment:	5
Study Start Date:	June 2008
Estimated Study Completion Date:	December 2009
Estimated Primary Completion Date:	October 2009 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
1: Experimental	Drug: Myozyme IV infusion of 20 mg/kg; qow

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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 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 low serum albumin.
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 ClinicalTrials.gov identifier: NCT00701129

Contacts

Contact: Medical Information	800-745-4447	medinfo@genzyme.com
Contact: Medical Information	617-252-7832	medinfo@genzyme.com

Locations

United States, Massachusetts
Recruitment is not limited to the facility listed; facilities not yet active may be added upon identification of a patient.	Recruiting
Cambridge, Massachusetts, United States

Sponsors and Collaborators

Genzyme

Investigators

Study Director:

Medical Monitor

Genzyme Coorporation

More Information

Responsible Party:	Genzyme ( Medical Monitor )
Study ID Numbers:	AGLU03807
Study First Received:	June 17, 2008
Last Updated:	December 1, 2008
ClinicalTrials.gov Identifier:	NCT00701129
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

Glycogenesis 2
Acid
Maltase
Deficiency

Study placed in the following topic categories:

Glycogen storage disease type 2
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Glycogen Storage Disease

Central Nervous System Diseases
Glycogen Storage Disease Type II
Brain Diseases, Metabolic, Inborn
Metabolic disorder
Brain Diseases
Brain Diseases, Metabolic

Additional relevant MeSH terms:

Lysosomal Storage Diseases, Nervous System
Nervous System Diseases
Carbohydrate Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on January 16, 2009