Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
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), and to understand the immune response in Pompe patients treated with ERT that do not make antibodies against 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.
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Effects of Immunomodulation Therapy on Anti-rhGAA Immune Response in Subjects With Pompe Disease Receiving rhGAA Enzyme Replacement Therapy|
- Anti-rh GAA antibody titers [ Time Frame: 52 weeks ] [ Designated as safety issue: No ]Antibody titer for recombinant alpha acid glucosidase (GAA), or 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
- Safety Labs [ Time Frame: 52 weeks ] [ Designated as safety issue: Yes ]Reports from clinical labs including white count, Immune-globulin G (IgG), 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)
Biospecimen Retention: Samples With DNA
Primary Skin cell fibroblast line will be maintained and any residual blood samples will be stored as serum and plasma when available.
|Study Start Date:||October 2008|
|Estimated Study Completion Date:||October 2018|
|Estimated Primary Completion Date:||October 2018 (Final data collection date for primary outcome measure)|
Age 0 months to 65 years
With a diagnosis of early-onset Pompe Disease. Total of 25 subjects enrolled, some of who will be candidates for immunomodulation therapy.
|Contact: Lee Ann Lawson, ARNPemail@example.com|
|United States, Florida|
|University of Florida||Recruiting|
|Gainesville, Florida, United States, 32610|
|Contact: Lee Ann Lawson, ARNP 352-273-7762 firstname.lastname@example.org|
|Contact: Lindsay Falk, BSN 352-273-9615 email@example.com|
|Principal Investigator: Barry J. Byrne, MD, PhD|
|Sub-Investigator: Melissa Elder, MD PhD|
|Sub-Investigator: Shelley Collins, MD|
|Principal Investigator:||Barry J Byrne, MD, PhD||University of Florida|