Pompe Disease
Conditions
Keywords
immune modulation therapy, acid α-glucosidase, antibody
Brief summary
The purpose of this study is to assess anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers after treatment with immune modulation therapy in patients of Pompe disease.
Interventions
Sponsors
National Taiwan University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* The patient (and/or patient's legal guardian if patient is \< 18years) must provide written informed consent prior to any study-related procedures that are performed; * The patient must have a confirmed diagnosis of Pompe disease defined as a documented acid α-glucosidase (GAA) enzyme deficiency from blood samples or 2 GAA gene mutations; * The patient (and/or legal guardian) must have ability to comply with clinical protocol; * Regimen A only: The patient is receiving enzyme replacement therapy, exhibits clinical decline, and has persistent high anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers and/or tested positive for antibodies that inhibit enzymatic activity and/or uptake of Myozyme; * Regimen B only: The patient is cross-reactive immune material (CRIM) -negative AND have not received Myozyme infusion prior to enrollment
Exclusion criteria
* The patient is at risk of reactivation or is a carrier of Hepatitis B or Hepatitis C; * The patient is at risk of reactivation of tuberculosis or has regular contact with individuals who are being actively treated for tuberculosis; * The patient has used any investigational product (other than alglucosidase alfa) within 30 days prior to study enrollment; * The patient is pregnant or lactating; * The patient has had or is required to have any live vaccination within one month prior to enrollment.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers decrease | 6 months |
Countries
Taiwan
Contacts
Primary ContactYin-Hsiu Chien
Outcome results
None listed