Ambroxol for people with Gaucher disease or GBA-related Parkinson's disease
Official title: 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
Run by Shaare Zedek Medical Center · NCT04388969 · Data updated 2026-11-12
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 |
|---|---|
| Ages | Any age to 100 Years |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | Shaare Zedek Medical Center Academic / other |
| Locations | 3 sites (Jerusalem, Please Select... and 2 other locations) |
| Status | Recruiting |
| Started | May 6, 2020 |
| Main results expected | October 31, 2030 |
| Study ends | November 30, 2030 |
| Registry record updated | April 29, 2026 |
| Trial ID | NCT04388969 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Small case series and preclinical studies have shown promising biochemical or neurological responses to ambroxol, but no large controlled trials have confirmed benefit.
Who can join: the full rules
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 it's running
-
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
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.