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

Condition(s) targeted: Pompe Disease; Glycogen Storage Disease Type II

Intervention: Myozyme (Drug)

Phase: Phase 4

Status: Recruiting

Sponsored by: Genzyme

Official(s) and/or principal investigator(s):
Medical Monitor, Study Director, Affiliation: Genzyme Coorporation

Overall contact:
Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

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.

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

Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Primary outcome:

Evaluate the efficacy a prophylactic immunomodulatory regimen given prior to first Myozyme infusion

Evaluate the clinical benefit of this regimen.

Evaluate the safety of this regimen

Minimum age: N/A. Maximum age: N/A. Gender(s): Both.

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.

Medical Information, Phone: 800-745-4447, Email: medinfo@genzyme.com

Durham, North Carolina, United States; Recruiting

Starting date: June 2008
Last updated: December 7, 2009