An observational study in Gaucher Disease, Parkinson Disease and GBA Gene Mutation, sponsored by Shaare Zedek Medical Center. Recruiting at 3 sites in Israel. Open to participants aged Up to 100 Years. Per ClinicalTrials.gov, last updated 2026-04-29.
Sponsored by Shaare Zedek Medical Center · Observational
Among 33 studies in Gaucher Disease with a site in Israel — 4 open to participants now, 5 under way, 1 of them phase 3. Gaucher Disease · Israel.
Among the 33 studies in Gaucher Disease with a site in Israel, this one is one of 3 that started in 2020, is one of 8 observational ones, and was the 28th registered.
177 studies on the registry are indexed under Gaucher Disease; 41 are open to participants now.
This study's planned enrollment of 300 is above the median of 63 across 67 observational studies indexed under Gaucher Disease.
Browse Gaucher Disease studies →4 of the 33 studies in Gaucher Disease with a site in Israel are open now, in 12 countries. Each count lists the studies.
Of the 26 Gaucher Disease studies recruiting now, 11 (42%) set no upper age limit and 11 (42%) stop at 75 or younger; 15 take children under 18; 4 take healthy volunteers.
This study: Up to 100 Years · all sexes · no healthy volunteers.
The full table on the hub →33 studies; the count open now beside each. This study's row is marked.
First in 1991; this study’s year is marked. 3 started in 2020.
Median enrollment 29 across the 24 interventional studies, 190 across the 8 observational. Of the 25 that completed or were terminated, 16 (64%) have results posted.
22 of 33 have an industry lead sponsor. The 10 most frequent:
Shaare Zedek Medical Center is the lead sponsor of 195 studies on the registry; 19 are open to participants now.
Shaare Zedek Medical Center has 7 studies filed under Gaucher Disease — fewer than ten, so there is no comparison to draw.
None of the studies under way reaches primary completion within a year.
Among the 33 studies in Gaucher Disease with a site in Israel, from their registry updates:
Nothing recorded among them since 2026-09-25.
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, due to its low cost, there have been no pharma-driven clinical trials to establish the use of ambroxol. Thus, data are needed on the safety and efficacy of ambroxol for patients with Gaucher disease (GD).
The three decades of success of enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease (GD1) have been just a partial success to those patients with the more severe neuronopathic forms, particularly the children with myoclonic epilepsy or the infants with type 2 GD.
Ambroxol hydrochloride is an oral mucolytic drug, available over-the-counter (OTC) for many years as cough medicine. In 2009 it was found (in-vitro) to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase (GCase), albeit in a several-fold higher dose . Unfortunately, due to its low cost, there have been no pharma-driven clinical trials to establish the use of ambroxol.
In an attempt to provide the proof of concept to the potential use of Ambroxol as PC for patients with GD, the Gaucher Clinic at Shaare Zedek Medical Center in Jerusalem, Israel, has treated 12 adult patients with GD1, all untreated with any specific treatment for GD [whether ERT or substrate reduction therapy (SRT),] with Ambroxol at the OTC dose of 150mg/day for a period of 6 months; this was not a formal clinical trial, but rather an audit of a series of patients receiving this drug via the employment of the Israeli Ministry of Health Form 29c to prescribe it for an off-label indication. A single patient, the thinnest of the group with a BMI of 17.1, achieved a robust response relative to baseline similar to ERT.
In 2016, a group from Japan has demonstrated impressive neurological response using high-dose Ambroxol (a marked decrease in seizure frequency, improvement of myoclonus, ability to walk for a bedridden patient, improvement in the latency of I-V waves and threshold of ABR) with dramatic change in daily activities and quality of life (QOL). These encouraging results, that were confirmed in a larger series, yet unpublished, have further led to the conduction of an investigator-initiated-research (IIR) clinical trial in London by Prof A Schapira, which has recently been published (January 13, 2020 JAMA Neurology), wherein newly diagnosed Parkinson patients received high dose Ambroxol, with good safety results
Patients with Gaucher disease type 1,2,3 (a,b,c) and patients with GBA-related Parkinson disease.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Patients with type 1,2,3 Gaucher disease.
Patients with Parkinson disease GBA related (carriers)
Establishing a registry to be used as a reference for patients,parents and physicians, who consider using Ambroxol
With no specific treatment to offer for patients (particularly children and young adults) with nGD, and with all the above-mentioned encouraging preliminary reports, in our current era of rapidly spreading information (in many meetings worldwide, in the internet and via the social media) individual patients in many countries have started to receive off-label Ambroxol by their treating physicians and a few case reports have been published from Korea , Israel and Canada . In order to upscale the level of evidence from anecdotal reports to an observational study, we herein suggest to establish a specific IIR, wherein the "R" stands for a "Registry", that may be used as a reference for patients , parents and physicians, who consider using Ambroxol.
Time frame: 10 years
Safety Outcome
By reporting adverse events
Time frame: 10 years
Started May 2020 (actual). Primary completion is estimated for Oct 2030, 125 months after the start.
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