Glycogen Storage Disease Type II
Conditions
Brief summary
This study is aimed to investigate that whether the higher dose ERT improve safety and clinical outcomes of Pompe disease patients. Also, wish to develop a new therapeutic recommendation and hope that it could improve the long-term outcomes of Pompe diesease patients.
Interventions
Standard dose: 20-25 mg/kg every other week; Higher dose: \>25 mg/kg every other week.
Sponsors
Taipei Veterans General Hospital, Taiwan
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Years to 60 Years
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of Pompe disease 2. Currently receiving ERT with regular clinic visits 3. Agree to sign informed consent
Exclusion criteria
1. Lost follow-up for clinical visits 2. Allergy to Myozyme 3. Refuse to sign informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Forced vital capacity | For patient older than 3-year-old, first test before study, then every six months, up to 2-years. | Pulmonary function test (Units: percentage of predictive value) |
| Peak expiratory flow | For patient older than 3-year-old, first test before study, then every six months, up to 2-years. | Pulmonary function test (Units: percentage of predictive value) |
| Polysomnography | For patient older than 6-month-old, first test before study, then every six months, up to 2-years. | Comprehensive test used to diagnose sleep disorders. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| ALT | ALT will be tested before the treatment, then every three months, up to 2-years. | Blood alanine aminotransferase (Units: units per liter, U/L). |
| Body weight | The body weight will be monitored before the treatment, then every two weeks, up to 2-years. | Change of body weight (Unit: kilogram, kg) |
| uGLC4 | uGLC4 will be tested before the treatment, then every three months, up to 2-years. | Urine glucose tetrasaccharide (Units: mmol/mol Creatinine). |
| Antibody titers | First test will be one month later after first ERT, then every six months, up to 2-years. | Alglucosidase alfa IgG antibody titer |
| Body height | The body height will be monitored before the treatment, then every two weeks, up to 2-years. | Change of body height (Units: centimeter, cm) |
| CK | CK will be tested before the treatment, then every three months, up to 2-years. | Blood creatine kinase (Units: units per liter, U/L). |
| AST | AST will be tested before the treatment, then every three months, up to 2-years. | Blood aspartate aminotransferase (Units: units per liter, U/L). |
Outcome results
None listed