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Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study)

Phase 2
Completed
Conditions
euronopathic Gaucher disease
Registration Number
JPRN-jRCT2091220421
Lead Sponsor
Tottori University Hospital, Departrment of Child Neurology
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
6
Inclusion Criteria

(1) Patients with decreased GBA activity in the lymphocyte or cultured dermal fibroblasts, genetically diagnosed with Gaucher's disease
(2) Patients with neurological symptoms
(3) Patients who or whose legally acceptable representatives gave voluntary written consent to participate in this study, after receiving sufficient explanations and fully understanding the explanations

Exclusion Criteria

(1) Patients with hypersensitive to ABX or excipients
(2) Patients with serious hepatic, renal, or cardiovascular disorders to be considered by the investigator or subinvestigator to be ineligible
(3) Patients showing total bilirubin, ALT, AST, or creatinine levels exceeding 3 times the facility reference value in the laboratory test, within 4 weeks before enrollment
(4) Patients who are pregnant or nursing or who desire to become pregnant by 3 months after the completion of the treatment with the investigational product. Patients who or whose partners are unwilling to agree to practice appropriate double barrier contraception during the study period
(5) Patients who participated in any clinical study of the chaperone therapy using ABX in the past
(6) Patients who participated in other clinical trials within 3 months before enrollment
(7) Patients considered by the investigator or subinvestigator to be ineligible for the study

Study & Design

Study Type
Interventional
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Glucosylsphingosine concentrations in the cerebrospinal fluid
Secondary Outcome Measures
NameTimeMethod
ymphocyte GBA activities, etc.
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