Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies

University of Florida

Status: Completed

Conditions: Pompe Disease

Treatments: Drug: Rituximab; Drug: Miglustat

Study type: Observational

Funder types: Other

Identifiers

NCT01451879

IMN 439-2008 (Other Identifier)

IRB201602404

Details and patient eligibility

About

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.

Full description

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).

Enrollment: 11 patients

Sex: All

Ages: Under 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• patients between the ages of 0 months and 65 years
• diagnosed with early-onset Pompe Disease, confirmed by mutational analysis and/or GAA enzyme assay
• eligible regardless of whether they have begun enzyme replacement therapy prior to enrollment
• all subjects will receive ERT as standard of care during the course of the study, although they may not have begun ERT treatment at the time of enrollment
• subjects may receive an immunomodulatory regimen as part of their standard of care; this may include rituximab, sirolimus, methotrexate, Gamunex, Hizentra, Zavesca or other immunomodulatory agents, alone or in combination, at the discretion of their caregiver(s)

Exclusion criteria

• subject is unable to meet the study requirements
• subjects medical condition contraindicates participation or Study Investigators feel that participation is otherwise not in the subject's best interest
• subject does not receive ERT treatment

Trial design

11 participants in 1 patient group

Age 0 months to 65 years

Description:

Confirmed diagnosis of Pompe Disease, and clinically prescribed immune modulation regimen with agents such as rituximab, sirolimus, methotrexate, IVIg or other immunomodulatory agents such as pharmacological chaperone Miglustat, N-butyldeoxynojirimycin (NB-DNJ), alone or in combination, at the discretion of their primary/specialist caregiver.

Treatment:

Drug: Miglustat

Drug: Rituximab