臨床研究等提出・公開システム

2 cohort, Non-randomized, Multi-site Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride in Patients with Neuronopathic Gaucher disease (J-ACT)

Japan-Ambroxol Chaperone Study (J-ACT)

Maegaki Yoshihiro

Tottori University Hospital

36-1 Nishi-cho, Yonago, Tottori Japan

maegaki@tottori-u.ac.jp

Endo Yusuke

Tottori University Hospital

36-1 Nishi-cho, Yonago, Tottori Japan

+81-859-38-6946

y-endo@tottori-u.ac.jp

Recruiting

Sept. 26, 2019

Interventional

single arm study

open(masking not used)

uncontrolled control

single assignment

treatment purpose

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

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

Both

Neuronopathic Gaucher disease

Ambroxol will be given.

Glucosylsphingosine concentrations in the cerebrospinal fluid

Lymphocyte GBA activities and safery, etc.

+81-859-38-7021

Aug. 27, 2019

none