Miglustat on Gaucher Disease Type IIIB

N/AUnknownNCT02520934

National Taiwan University Hospital19 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Gaucher Disease

Interventions

MiglustatDRUG

combine miglustat and ERT to see if neurologic manifestations can be improved

ERTDRUG

enzyme replacement therapy

Eligibility

Sex: ALLMin age: 6 YearsHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

Improve in Purdue Pegboard test speed

Time frame: 24 months

Data from ClinicalTrials.gov

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