Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol

Phase 2

• Conditions: euronopathic Gaucher disease; Gaucher disease, Pharmacological chaperone therapy, ambroxol; D005776

• Registration Number: JPRN-jRCTs061180090
• Lead Sponsor: Maegaki Yoshihiro

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-03-22
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 25

Inclusion 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

Exclusion 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.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Primary Outcome Measures: Safety <br>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 Measures

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