Miglustat on Gaucher Disease Type IIIB

National Taiwan University

Status: Unknown

Conditions: Gaucher Disease

Treatments: Drug: ERT; Drug: Miglustat

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT02520934

201503076MIPD

Details and patient eligibility

About

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

Full description

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

Enrollment: 19 patients

Sex: All

Ages: 6+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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)

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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19 participants in 2 patient groups

Case_Miglustat

Experimental group

Description:

Besides regular ERT, patients in this group also need to take Miglustat for 24 months.

Treatment:

Drug: Miglustat

Drug: ERT

Control

No Intervention group

Description:

Patients will be tested for their pupil cycle time.