Miglustat on Gaucher Disease Type IIIB

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

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02520934

Enrollment

Registered

2015-08-13

Start date

2015-07-31

Completion date

2019-12-31

Last updated

2019-03-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher Disease

Keywords

Enzyme Replacement Therapy, Miglustat, Gaucher Disease

Brief summary

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

Detailed description

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

Interventions

DRUGMiglustat

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

DRUGERT

enzyme replacement therapy

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

6 Years to No maximum

Healthy volunteers

Yes

Inclusion 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

Design outcomes

Primary

Measure	Time frame
Improve in Purdue Pegboard test speed	24 months

Countries

Taiwan

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026