Related Experiment Video
Updated: May 17, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
Ari Zimran1, Gheona Altarescu, Deborah Elstein
1Gaucher Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Blood Cells, Molecules & Diseases
|October 23, 2012
Summary
Ambroxol shows promise as a safe and potentially effective treatment for Gaucher disease type 1, improving key disease markers in a pilot study. Further clinical trials are recommended to confirm these findings.
Area of Science:
- Pharmacology
- Rare Diseases
- Genetics
Background:
- Gaucher disease is a rare genetic disorder affecting enzyme function.
- Enzyme replacement therapy (ERT) is a standard treatment.
- Alternative therapies like pharmacological chaperones are being explored.
Purpose of the Study:
- To evaluate ambroxol's tolerability and efficacy in type 1 Gaucher disease patients not on ERT.
- To gather proof of concept for ambroxol as a pharmacological chaperone.
- To assess suitability for a larger clinical trial.
Main Methods:
- Pilot study involving 12 patients with symptomatic type 1 Gaucher disease.
- Off-label prescription of ambroxol (150 mg daily) for 6 months.
- Monitoring of key disease parameters including hemoglobin, platelets, liver, and spleen volume.
Main Results:
- Ambroxol was generally well-tolerated; no clinically relevant deterioration observed.
- One patient showed significant improvement in hemoglobin, platelets, and organ volumes.
- Extended treatment in three patients demonstrated stable or improved parameters, with further spleen volume reduction.
Conclusions:
- Ambroxol appears to be a safe option for Gaucher disease patients.
- Potential disease-specific efficacy warrants further investigation.
- Higher-dose, placebo-controlled clinical trials are recommended.