Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol

JRCT ID: jRCTs061180090

Registered date:22/03/2019

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: Neuronopathic Gaucher disease
• Date of first enrollment: 16/03/2010
• Target sample size: 25
• Study type: Interventional
• Intervention(s): Ambroxol at a dose level of 25 mg/kg/day (upper limit: 1300mg/day) will be given by mouth for 6 months.

Outcome(s)

Primary Outcome

Primary Outcome Measures: Safety
Safety will be based on physical exam, vital signs, adverse event query, and clinical pathology (includes chemistry, hematology and urinalysis), asessed at baseline and approximately biweekly during the study.

Secondary Outcome

Secondary Outcome Measures: Efficacy
Efficacy is based on biomarker (glucocerebrosidase activities in lymphocytes), changes in neurological or neurophysiological assessments, activities of daily
living (ADLs).

Key inclusion & exclusion criteria

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

Include criteria

1)Patients with neuronopathic Gaucher disease, defined by the presence of deficiency of glucocerebrosidase activities in lymphocytes/fibroblasts and 2 mutated GBA alleles.
2)Patients with known sequence variants associated with ABX effectiveness (such as F213I,N188S,R120W,G202R), or prior known positive result on in-vitro chaperone test using ABX.
3)Signed written informed consent

Exclude criteria

1) Current participation in another investigational study, or using other investigational drug within 3 months prior to the participation to the trial.
2) Patients who are not appropriate to participate to the trial.

Related Information

• Primary Sponsor: Maegaki Yoshihiro
• Source(s) of Monetary Support: Sanofi K.K
• Secondary ID(s): UMIN000009392