An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol

An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol - Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol

Status

Recruiting

Phases

Phase 2

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000009392

Enrollment

Registered

2012-11-24

Start date

2012-11-24

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neuronopathic Gaucher disease

Interventions

Ambroxol at a dose level of 25 mg/kg/day (upper limit: 1g/day) will be given by mouth for 6 months.

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Written informed consent

Exclusion criteria

Exclusion criteria: 1) Patients with critical illness 2) Pregnant or lactating woman 3) Within 3 months from other clinical trial 4) Patients who are not appropriate to participate to the trial.

Design outcomes

Primary

Measure	Time frame
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 Measures: Efficacy Efficacy is based on biomarker (glucoce- rebrosidase activities in lymphocytes), changes in neurological or neurophysiol- ogical assessments, activities of daily living (ADLs).	—

Measure

Time frame

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 Measures: Efficacy Efficacy is based on biomarker (glucoce- rebrosidase activities in lymphocytes), changes in neurological or neurophysiol- ogical assessments, activities of daily living (ADLs).

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Countries

Japan

Contacts

Public ContactAya Narita

Tottori University Child Neurology

aya.luce@nifty.com0859-38-6777

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026