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 ]

Antibody titer for anti-rh-GAA will be evaluated at baseline and every 4-8 weeks for 52 weeks of participation in the primary study. For subjects who continue participation in the extension study (>52 weeks - 5 years), anti-rh-GAA antibody titers will be evaluated every 12 - 24 weeks.


Original Primary Outcome: Anti-rh GAA antibody titers [ Time Frame: 52 weeks ]

anti-rh-GAA antibody titers will be evaluated at baseline and every 4-8 weeks for 52 weeks of participation in the primary study. Subjects who continue participation in the extension study (>52 weeks - 3 years, anti-rh-GAA antibody titers will be evaluated every 12 weeks


Current Secondary Outcome: B-lymphocyte antigen (CD20) level [ Time Frame: 52 weeks ]

Reports from clinical lab: B-lymphocyte antigen (CD20) will be added to the study record when available every 4-12 weeks during the primary study and every 12 weeks for subjects who participate in the extension study (>52 weeks - 6 years)


Original Secondary Outcome: Safety Labs [ Time Frame: 52 weeks ]

Safety labs including white count, IgG, CD20 will be evaluated every 4-12 weeks during the primary study and every 12 weeks for subjects who participate in the extension study (>52 weeks - 3 years)


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