World Data on Ambroxol for Patients With GD and GBA Related PD

NCT ID: NCT04388969

Last Updated: 2023-02-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-05-06

Study Completion Date

2024-01-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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).

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Gaucher Disease Parkinson Disease GBA Gene Mutation

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Gaucher disease patients

Patients with type 1,2,3 Gaucher disease.

No interventions assigned to this group

GBA carriers with Parkinson disease

Patients with Parkinson disease GBA related (carriers)

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

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

Exclusion Criteria

* None.
Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Shaare Zedek Medical Center

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Ari Zimran

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Ari Zimran, MD

Role: PRINCIPAL_INVESTIGATOR

Shaare Zedek Medical Center

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Shaare Zedek Medical Center

Jerusalem, Please Select..., Israel

Site Status RECRUITING

Shaare Zedek Medical Center

Jerusalem, , Israel

Site Status RECRUITING

Shaare Zedek Medical Center

Jerusalem, , Israel

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Israel

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Majdolen Istaiti, BS.C

Role: CONTACT

+972-2-5645681

Ari Zimran, MD

Role: CONTACT

+972-2-5645681

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Ari Zimran, M.D.

Role: primary

+97226555143

Joleen Istaiti, MBA

Role: backup

+97226555143

Joleen Istaiti, BS.c

Role: primary

+97226555143

Ari Zimran, MD

Role: backup

+97226555143

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

0097-20-SZMC

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.