Clinical Trial: Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Effects of Immunomodulation Therapy on Anti-rhGAA Immune Response in Subjects With Pompe Disease Receiving rhGAA Enzyme Replacement Therapy
Brief Summary: 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.
Detailed Summary:
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).
Sponsor: University of Florida
Current Primary Outcome: Anti-rh GAA antibody titers [ Time Frame: 52 weeks ]
Original Primary Outcome: Anti-rh GAA antibody titers [ Time Frame: 52 weeks ]
Current Secondary Outcome: B-lymphocyte antigen (CD20) level [ Time Frame: 52 weeks ]
Original Secondary Outcome: Safety Labs [ Time Frame: 52 weeks ]
Information By: University of Florida
Dates:
Date Received: September 15, 2011
Date Started: October 2008
Date Completion: October 2018
Last Updated: December 5, 2016
Last Verified: December 2016