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 study is to provide compassionate use of a recombinant protein to replace deficient enzyme activity in patients with adult onset Pompe disease who are ventilator dependent and wheelchair bound. The enzyme preparation, Myozyme, will be supplied by Genzyme Corporation for every other week infusion. Introduction of recombinant acid alpha-glucosidase will possibly result in decreased abnormal storage of glycogen in heart and skeletal muscle enabling an increase in muscle strength, improvement in breathing, and improvement in heart function. Physical functioning and ventilator use will be followed as will blood chemistries to detect any changes. Infusions will be stopped for any serious medical complication that may occur. Therapy may be continued indefinitely.
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