Miglustat on Gaucher Disease Type IIIB

Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIB

evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher disease

understand if Miglustat (glucosylceramide synthase inhibitor) could improve neuropathy in patients with Gaucher disease

Case_Miglustat

Inclusion 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)