Ambroxol for people with Gaucher disease or GBA-related Parkinson's disease
IIR REGISTRY for the Collection of Real World Data on the Safety and Efficacy of Ambroxol for Patients With Gaucher Disease or GBA Carriers With Parkinson Disease
This project tests whether ambroxol is safe and may help people with Gaucher disease or Parkinson's disease caused by GBA gene changes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | N/A to 100 Years |
| Sex | All |
| Sponsor | Shaare Zedek Medical Center Academic / other |
| Locations | 3 sites (Jerusalem, Please Select... and 2 other locations) |
| Trial ID | NCT04388969 on ClinicalTrials.gov |
What this trial studies
This is an observational effort to collect real-world safety and outcome data from patients with Gaucher disease and GBA-related Parkinson's disease who receive ambroxol off-label. Ambroxol is an oral mucolytic widely available over the counter that in laboratory studies can act as a pharmacological chaperone for the mutant glucocerebrosidase enzyme at higher doses. The initial clinical experience described an audit of 12 adult GD1 patients treated at an OTC dose and reports from Japan have suggested neurological responses with higher dosing. The project aggregates clinical, biochemical, and safety information from treated patients rather than using randomized or placebo-controlled assignment.
Who should consider this trial
Good fit: Ideal candidates are people diagnosed with Gaucher disease (types 1–3) or Parkinson's disease carrying GBA mutations who are willing to receive off-label ambroxol and be followed for safety and outcomes.
Not a fit: People without GBA mutations, with Parkinson's disease not related to GBA, or who cannot take ambroxol for medical reasons are unlikely to benefit from this approach.
Why it matters
Potential benefit: If successful, this could offer a low-cost oral option that improves enzyme function and clinical symptoms for people with Gaucher disease or GBA-related Parkinson's disease.
How similar studies have performed: Small case series and preclinical studies have shown promising biochemical or neurological responses to ambroxol, but no large controlled trials have confirmed benefit.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * patients with Gaucher disease type 1,2 or 3(a,b,c). * patients with GBA-related Parkinson disease. Exclusion Criteria: * None.
Where this trial is running
Jerusalem, Please Select... and 2 other locations
- Shaare Zedek Medical Center — Jerusalem, Please Select..., Israel (Recruiting)
- Shaare Zedek Medical Center — Jerusalem, Israel (Recruiting)
- Shaare Zedek Medical Center — Jerusalem, Israel (Recruiting)
Study contacts
- Principal investigator: Ari Zimran, MD — Shaare Zedek Medical Center
- Study coordinator: Majdolen Istaiti, BS.C
- Email: joleenist@szmc.org.il
- Phone: +972-2-5645681
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.