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High-Dose Ambroxol in GBA1-Related Parkinson

A

Agyany Pharma

Status and phase

Enrolling
Phase 2
Phase 1

Conditions

Parkinson Disease
GBA Gene Mutation

Treatments

Drug: Ambroxol Hydrochloride

Study type

Interventional

Funder types

Industry

Identifiers

Details and patient eligibility

About

Parkinson's disease (PD), affecting 10 million people globally, lacks a cure, and current therapies only manage symptoms. A link between Gaucher disease (GD) and PD, particularly in carriers of glucocerebrosidase (GBA1) mutations, has sparked interest in developing new drugs. Despite pharmaceutical companies focusing on formulations, progress is slow. Agyany, with decades of experience in GD research, plans clinical trials using existing generic drugs for GBA-related PD and idiopathic PD. Their approach targets the misfolded enzyme glucocerebrosidase with pharmacological chaperons, inspired by success in GD using ambroxol. The strategy aims to provide a quicker path to novel therapeutic options for PD.

Full description

Parkinson disease (PD) is the second most common neurodegenerative disease affecting around 10 million people worldwide. It is a debilitating disorder that despite many years and billions of dollars research - there is still no cure and none of the therapeutic options truly reverse its manifestations. The realization that the relationship between Gaucher disease (GD) - the rare lysosomal storage disease - and PD, also exists in carriers of the disease (with a mono-allele mutation in glucocerebrosidase (GBA1)) has led to several attempts to develop new drugs not just for GBA-related PD, but also for PD at large. However, heretofore all pharmaceutical companies have focused on finding new formulations, mostly based on what Agyany believe is not targeting the underlying pathology, but in any case, will require several years before new drugs will reach the market. With the background of three decades working at the world's largest center for GD at Shaare Zedek Medical Center in Jerusalem, and with a different understanding of the pathological processes leading to PD among a significant number of GD patients and carriers, Agyany plans to begin clinical trials in newly diagnosed PD patients using existing generic drugs that would enable a short path for introducing novel therapeutic approach to GBA-related PD and potentially also for so called idiopathic PD (when no genetic cause is known).

Based on our understanding of the underlying mechanism of GBA1-related PD, on research done in animal models and on our own anecdotal experience, Agyany believe that pharmacological chaperons are the most reasonable therapeutic modality to achieve success. Since the misfolding of the mutant enzyme, glucocerebrosidase, is the same both in GBA1-related PD and GD, and that the ambroxol impact is the same as well, Agyany can extrapolate from the success of ambroxol to achieve reversibility of neuronopathic features (that heretofore were considered irreversible, and the best expectation was lack of deterioration), in neuronopathic GD (nGD), to potential success in GBA-related PD.

The plan is to first use generic formulations with a confirmed safety profile and repurpose their indication to PD.

Enrollment

40 estimated patients

Sex

All

Ages

30 to 70 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

For inclusion into the trial, subjects are required to fulfill all of the following criteria:

Newly diagnosed PD patients:

  1. Individuals who exclusively carry at least one single GBA1 variant without any additional genetic variants.

  2. Confirmed diagnosis of PD, by a movement disorder specialist, according to MDS PD criteria, within a maximum of three years from the date of diagnosis, coupled with the following conditions:

    iii. Hoehn and Yahr staged between I-II, inclusive.

    iv. No motor fluctuations or L-dopa induced dyskinesia.

  3. Stable anti-PD medications for ≥ 4 weeks:

    Subjects can take PD medications including NMDA glutamate antagonists, monoamine oxidase B (MAO-B) inhibitors, dopamine agonists, and L-Dopa.

  4. Male or female, age 30-70 years; however, if female:

    • must be using contraception measures if of childbearing potential.
    • must not be lactating.
  5. Complying with study protocol.

Exclusion criteria

Eligible subjects may not have any of the following exclusion criteria:

  1. Presence of any medical, emotional, behavioral, or psychological condition that in the judgment of the Investigator would interfere with the subject's compliance with the requirements of the study (such as clinical depression).

  2. Any other disorder that may interfere with the results of the efficacy endpoints.

  3. Currently taking another investigational drug for any condition.

  4. Use of dopaminergic treatment under these conditions:

    • L-Dopa equivalent daily dose > 400mg
    • L-Dopa daily dose > 300mg
    • L-Dopa equivalent and L-Dopa daily dose has been changed in the past 4 weeks prior to screening visit.
  5. Medical history of psychosis.

  6. Exposure to ambroxol in the last 24 months prior to screening and/or history of adverse events to ambroxol.

  7. Exposure to dopamine receptor blocking agents, lithium, cinnarizine, amiodarone or valproic acid in the last 12 months prior to screening.

  8. Pregnancy or lactation; female subjects of a childbearing age who are unwilling to use contraceptive measures.

Trial design

Primary purpose

Treatment

Allocation

N/A

Interventional model

Single Group Assignment

Masking

None (Open label)

40 participants in 1 patient group

Ambroxol hydrochloride
Experimental group
Description:
Daily administration of Ambroxol in newly diagnosed GBA1 PD.
Treatment:
Drug: Ambroxol Hydrochloride

Trial contacts and locations

1

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Central trial contact

Majdolen Istaiti, MBA

Data sourced from clinicaltrials.gov

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