Neuronopathic Gaucher disease
Conditions
Interventions
Ambroxol will be given.
Sponsors
Narita Aya
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients with decreased GBA activities in the lymphocyte and cultured dermal fibroblasts, genetically diagnosed with Gaucher's disease 2) Patients with neurological symptoms Abnormal eye movements, respiratory disorders, dysphagia, dyslalia, convulsive seizures, myoclonus, abnormal muscle tightness (dystonia, hypotonia, opisthotonus, spasticity), ataxia, psychomotor developmental delay/regression, etc. 3) Patients who or whose legally acceptable representatives gave voluntary written consent to participation in this study, after receiving sufficient explanations and fully understanding the explanations
Exclusion criteria
Exclusion criteria: 1) Patients 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. For patients who transition from the prior study and who violate the criteria, the chief investigator and principal investigator comprehensively review the data of the prior study in terms of risk benefit, and once they judged that there is no problem with the transition to this study, it is possible to join this study. 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 contraception during the study period 5) Patients who participated in other clinical trials within 3 months before enrollment. However, patients who were enrolled previous study, and judged tolerated by investigator or subinvestigator could join in this study. 6) Other patients considered by the investigator or subinvestigator to be ineligible for the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Glucosylsphingosine concentrations in the cerebrospinal fluid | — |
Secondary
| Measure | Time frame |
|---|---|
| Lymphocyte GBA activities and safery, etc. | — |
Contacts
Public ContactYusuke Endo
Tottori University Hospital
Outcome results
None listed