Overview

Miglustat on Gaucher Disease Type IIIB

Status:
Unknown status

Trial end date:
2019-12-01

Target enrollment:
0

Participant gender:
All

Summary

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

Phase:

N/A

Accepts Healthy Volunteers?

Accepts Healthy Volunteers

Details

Lead Sponsor:

National Taiwan University Hospital

Collaborator:

Actelion

Treatments:

1-Deoxynojirimycin
Miglustat

Criteria

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)