RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE IN PTS W/ INFANTILE-ONSET POMPE DISEASE

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This is an open-label, multicenter study of recombinant human acid alpha-glucosidase (rhGAA) (also called Myozyme) as an enzyme replacement therapy for the treatment of infantile-onset Pompe disease in patients 6 to 36 months old. This is a rare disease with a calculated incidence of 1 in 40,000 for all phenotypes of Pompe disease. The primary objectives are: 1) to evaluate the safety profile of rhGAA; 2) to determine the proportion of patients who are alive over the course of treatment; 3) to determine the pharmacokinetic profile of rhGAA in this population; and 4) to determine the pharmacodynamics of rhGAA. Subjects will receive 20 mg/kg rhGAA by intravenous infusion every two weeks for 52 weeks; however the dose may be increased to a maximum of 40 mg/kg if a patient meets the dose augmentation criteria after at least 26 weeks of treatment. Patients will then continue treatment in a repeating 52-week maintenance module, repeatable (if there are no patient safety concerns) until the study is terminated or until market approval. Cardiac, respiratory, and motor assessments of clinical response will be used to determine suitability for dose augmentation. Muscle biopsy will be performed at baseline, week 12, and week 52 during the initial phase. There is an optional muscle biopsy at the end of each year of the maintenance phase, at the discretion of the investigator. A total of 20 subjects will be enrolled with only 1 subject, who is in the maintenance phase of the study, to be seen at this site. The subject will be seen on the GCRC for the infusions every 2 weeks.