Glycogen Storage Disease Type 2
IRB Number: 00055208
Specialty: Pediatric Genetics
The objective of this study is to evaluate the efficacy and safety of treatment with 4000 L alglucosidase alfa (Lumizyme ®) in Pompe patients.
The primary efficacy objective is to demonstrate comparability of treatment with alglucosidase alfa produced at the 4000 L scale in patients previously treated with 160 L scale alglucosidase alfa. This will involve assessing the proportion of patients transitioned to treatment with 4000 L scale alglucosidase alfa who are clinically stable or improved at Week 52, defined as the absence of any of the following definitions of clinical worsening:
•death due to disease progression or new dependency on invasive ventilation (see Section 12.7.2 for definition)
•decline in cardiac status from baseline with an increase in left ventricular mass Z-score (LVM-Z) of >1 Z-score above a Z-score of 2 (i.e., outside the normal range)
•decline in motor function from baseline as measured by an absolute decrease in Gross Motor Function Measure−88 Scale (GMFM-88) Total Percent Score of ≥8%
•decline in pulmonary function from baseline with a decrease of ≥15% in absolute value in forced vital capacity (FVC) % predicted in the sitting position
Secondary objectives are to determine:
•percent survival at Week 52
•percent invasive ventilator-free survival at Week 52
•change from baseline on LVM-Z at Week 52
•change from baseline on mean GMFM-88 Total Percent Score at Week 52
•change from baseline in FVC% predicted in the sitting position at Week 52
• the safety and immunogenicity profile of alglucosidase alfa produced at the 4000 L scale
An exploratory objective is to determine:
• the comparability of the pharmacokinetic (PK) profile of alglucosidase alfa produced at the 4000 L and 160 L scales
Principle Investigator: Dave Viskochil
Principle Department: Pediatric Genetics
Co Investigator: Nicola Longo
Co Investigator: Ashley Warnock
Co Investigator: John Carey
Co Investigator: Lorenzo Botto
1. The patient and/or their parent/legal guardian is willing and able to provide signed informed consent.
2. The patient must be at least 1 year of age at the time of informed consent.
3. The patient has a diagnosis of Pompe disease and must have received treatment with 160 L alglucosidase alfa prior to screening.
4. The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin) at baseline. Note: all female patients of childbearing potential and sexually mature males must agree to use a medically accepted method of contraception throughout the study.
1. The patient has within the past 3 months received or is currently receiving any investigational product other than 160 L alglucosidase alfa or is currently participating in another clinical treatment study.
2. The patient, in the opinion of the Investigator, is clinically unstable and would not be expected to survive to completion of the 52-week treatment period.
3. The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study