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Report for Clinical Trial NCT02520934

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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

NCT02520934 Gaucher Disease
MeSH:Gaucher Disease

2 Interventions

Name: Miglustat

Description: combine miglustat and ERT to see if neurologic manifestations can be improved
Type: Drug
Group Labels: 1

Case_Miglustat

Name: ERT

Description: enzyme replacement therapy
Type: Drug
Group Labels: 1

Case_Miglustat


Primary Outcomes

Measure: Improve in Purdue Pegboard test speed

Time: 24 months

Purpose: Treatment

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 L444P

Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---

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) Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---



HPO Nodes