An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
Pompe Disease, Glycogen Storage Disease Type II
About this trial
This is an interventional treatment trial for Pompe Disease focused on measuring Glycogenesis 2, Acid, Maltase, Deficiency
Eligibility Criteria
Inclusion Criteria:
- The patient's legal guardian(s) must have provided written informed consent prior to any study-related procedures being performed
- The patient must have had a clinical diagnosis of Pompe disease as defined by documented acid alpha-glucosidase (GAA) deficiency (deficient endogenous GAA activity) in skin fibroblasts, muscle, or blood, or 2 GAA mutations. Consent was also sought from the biological parent(s) for parental GAA mutational analysis, but was not a requirement for study eligibility
- The patient must have not received Myozyme® or any rhGAA therapies prior to enrollment in the study
- The patient must be CRIM negative via Western Blot analysis performed on skin fibroblasts or via 2 known CRIM negative mutations (in which case CRIM status was to be confirmed by Western Blot analysis after enrollment)
- The patient's legal guardian(s) must have the ability to comply with the clinical protocol
Exclusion Criteria:
- The patient had any medical condition that, in the opinion of the Investigator, could be exacerbated/precipitated by or interfere with the study regimen or assessments; such conditions may include but were not limited to human immunodeficiency virus, cancer, Hepatitis B, Hepatitis C, Cytomegalovirus, Herpes Simplex, John Cunningham (JC) virus, Parvovirus, or Epstein Barr virus or tuberculosis
- The patient had used any investigational product within 30 days prior to study enrollment
- The patient had or was required to have any live vaccination within 1 month prior to enrollment
Sites / Locations
- Kosair Children's Hospital
- Duke University Medical Center
Arms of the Study
Arm 1
Experimental
Alglucosidase Alfa
Alglucosidase alfa (Myozyme®) 20 milligrams per kilogram (mg/kg) intravenous (IV) infusion every other week (qow) (or optionally 20 mg/kg IV infusion every week [qw]) beginning from Day 0 to a minimum of 18 months or if the patient was less than (<) 6 months of age at the time of enrollment, until the patient was 2 years of age, along with methotrexate 0.4 mg/kg subcutaneously for 3 consecutive days qow beginning from Day 0 to Week 6 (9 doses) and rituximab 375 milligrams per square meter (mg/m^2) (or 12.5 mg/kg for patients with body surface area less than or equal to 0.5 m^2) IV infusion qw beginning from Day -1 to Week 4 (4 doses) as per local prescribing information. An additional 4-week cycle of rituximab (up to 4 additional doses) and 6-week cycle of methotrexate (up to 9 additional doses) may have been administered within the first 6 months of the study as per local prescribing information.