Overview
Miglustat on Gaucher Disease Type IIIB
Status:
Unknown status
Unknown status
Trial end date:
2019-12-01
2019-12-01
Target enrollment:
0
0
Participant gender:
All
All
Summary
evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher diseasePhase:
N/AAccepts Healthy Volunteers?
Accepts Healthy VolunteersDetails
Lead Sponsor:
National Taiwan University HospitalCollaborator:
ActelionTreatments:
1-Deoxynojirimycin
Miglustat
Criteria
Case_MiglustatInclusion Criteria:
1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta-
glucocerebrosidase, and found L444P homozygous on GBA gene.
2. Aged 6 years old or above.
3. 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:
1. History of tremor and abnormal extremities perception ( pain, numbness, tingle etc.)
2. Abnormal kidney function.
3. 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).
4. Allergic to Miglustat.
Control_normal Inclusion Criteria
1. Age 6-18 years
2. No significant physical, mental, or psychiatric problems
Exclusion criteria
1. Children with eye disease (not include myopia, hyperopia, Astigmatism)