Pompe Disease Clinical Trial
Official title:
Effects of Immunomodulation Therapy on Anti-rhGAA Immune Response in Subjects With Pompe Disease Receiving rhGAA Enzyme Replacement Therapy
Hypothesis: the effectiveness of treatment of Pompe Disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop antibodies against the provided rhGAA enzyme. Treatment with immunomodulatory drugs may dampen or eliminate the anti-rhGAA immune response in patients receiving ERT, thereby allowing for greater ERT efficacy. Studying the immune response to rhGAA may provide valuable insight into the role of the immune system in the effectiveness of ERT for Pompe Disease.
The purpose of this research study is to determine the effect(s) of medications that alter
the immune system on anti-rhGAA immune response in Pompe patients receiving rhGAA enzyme
replacement therapy (ERT). The investigators would also like to determine whether treating
Pompe Disease with medications that affect the immune system has any effects on the overall
health or disease progression of Pompe.
Subjects will be patients between the ages of 0 months and 65 years who have been diagnosed
with Pompe Disease, confirmed by mutational analysis and/or GAA enzyme activity assay.
Subjects will be eligible regardless of whether they have begun enzyme replacement therapy
prior to enrollment. All Subjects will receive enzyme replacement therapy as standard of care
during the course of the Study, although they may not have begun ERT treatment at the time of
enrollment. In addition to ERT, subjects may receive an immunomodulatory regimen as part of
their standard of care; this may include rituximab, sirolimus, methotrexate, IVIg or other
immunomodulatory agents such as pharmacological chaperone N-butyldeoxynojirimycin (NB-DNJ),
alone or in combination, at the discretion of their caregiver(s).
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