Japan-Ambroxol Chaperone Study

• Register: JPRN
• Last refreshed on: 1 April 2024
• Main ID: JPRN-jRCTs061190017
• Date of registration: 26/09/2019
• Prospective Registration: Yes
• Primary sponsor: Maegaki Yoshihiro
• Public title: Japan-Ambroxol Chaperone Study
• Scientific title: 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
• Date of first enrolment: 21/11/2019
• Target sample size: 25
• Recruitment status: Recruiting
• URL: https://jrct.niph.go.jp/latest-detail/jRCTs061190017
• Study type: Interventional
• Study design: single arm study, open(masking not used), uncontrolled control, single assignment, treatment purpose
• Phase: 3

Contacts

• Name: Yoshihiro Maegaki
• Affiliation: Tottori University Hospital

• Name: Yusuke Endo
• Affiliation: Tottori University Hospital

Key inclusion & exclusion 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: 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

Age minimum: Not applicable
Age maximum: Not applicable
Gender: Both

Health Condition(s) or Problem(s) studied

Neuronopathic Gaucher disease

Intervention(s)

Ambroxol will be given.

Primary Outcome(s)

Glucosylsphingosine concentrations in the cerebrospinal fluid

Secondary Outcome(s)

Lymphocyte GBA activities and safery, etc.

Source(s) of Monetary Support

JCR Pharmaceutical company

Ethics review

Status: Approval
Approval date: 27/08/2019
Contact:

[e-mail]

Certified Review Board, Tottori University Hospital

[phone]

[e-mail]