NCT04388969

Brief Summary

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).

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started May 2020

Longer than P75 for all trials

Geographic Reach
1 country

3 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress57%
May 2020Nov 2030

Study Start

First participant enrolled

May 6, 2020

Completed
4 days until next milestone

First Submitted

Initial submission to the registry

May 10, 2020

Completed
5 days until next milestone

First Posted

Study publicly available on registry

May 15, 2020

Completed
10.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 31, 2030

Expected
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

November 30, 2030

Last Updated

April 29, 2026

Status Verified

April 1, 2026

Enrollment Period

10.5 years

First QC Date

May 10, 2020

Last Update Submit

April 23, 2026

Conditions

Keywords

AmbroxolGaucher DiseaseGBA carriers with Parkinson disease

Outcome Measures

Primary Outcomes (2)

  • 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.

    10 years

  • Safety Outcome

    By reporting adverse events

    10 years

Study Arms (2)

Gaucher disease patients

Patients with type 1,2,3 Gaucher disease.

GBA carriers with Parkinson disease

Patients with Parkinson disease GBA related (carriers)

Eligibility Criteria

AgeUp to 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Gaucher disease type 1,2,3 (a,b,c) and patients with GBA-related Parkinson disease.

You may qualify if:

  • patients with Gaucher disease type 1,2 or 3(a,b,c).
  • patients with GBA-related Parkinson disease.

You may not qualify if:

  • None.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Shaare Zedek Medical Center

Jerusalem, Please Select..., 9103102, Israel

RECRUITING

Shaare Zedek Medical Center

Jerusalem, Israel

RECRUITING

Shaare Zedek Medical Center

Jerusalem, Israel

RECRUITING

MeSH Terms

Conditions

Gaucher DiseaseParkinson Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersParkinsonian DisordersBasal Ganglia DiseasesMovement DisordersSynucleinopathiesNeurodegenerative Diseases

Study Officials

  • Ari Zimran, MD

    Shaare Zedek Medical Center

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Majdolen Istaiti, BS.C

CONTACT

Ari Zimran, MD

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

May 10, 2020

First Posted

May 15, 2020

Study Start

May 6, 2020

Primary Completion (Estimated)

October 31, 2030

Study Completion (Estimated)

November 30, 2030

Last Updated

April 29, 2026

Record last verified: 2026-04

Locations