Miglustat on Gaucher Disease Type IIIB
- Registration Number
- NCT02520934
- Lead Sponsor
- National Taiwan University Hospital
- Brief Summary
evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher disease
- Detailed Description
understand if Miglustat (glucosylceramide synthase inhibitor) could improve neuropathy in patients with Gaucher disease
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 19
Inclusion Criteria
- Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene.
- Aged 6 years old or above.
- Already have regular ERT (30-120 IU/kg/ every 2 weeks) at least a year; dosage and frequency of ERT had not been changed in recent 3 months.
Exclusion Criteria
- History of tremor and abnormal extremities perception ( pain, numbness, tingle etc.)
- Abnormal kidney function.
- Pregnant or plan to have a baby ( potentially pregnant patient need to be transferred to gynecologist for the test and promise to have proper contraception measures).
- Allergic to Miglustat.
Control_normal Inclusion Criteria
- Age 6-18 years
- No significant physical, mental, or psychiatric problems
Exclusion criteria
- Children with eye disease (not include myopia, hyperopia, Astigmatism)
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description Case_Miglustat Miglustat Besides regular ERT, patients in this group also need to take Miglustat for 24 months. Case_Miglustat ERT Besides regular ERT, patients in this group also need to take Miglustat for 24 months.
- Primary Outcome Measures
Name Time Method Improve in Purdue Pegboard test speed 24 months
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Taiwan University Hospital
🇨🇳Taipei, Taiwan