Emerging treatments for progressive myoclonus epilepsies

ABSTRACT

Introduction: Progressive myoclonus epilepsies (PMEs) are a group of neurodegenerative diseases, invariably leading to severe disability or fatal outcome in a few years or decades. Nowadays, PMEs treatment remains challenging with a significant burden of disability for patients. Pharmacotherapy is primarily used to treat seizures, which impact patients’ quality of life. However, new approaches have emerged in the last few years, which try to curb the neurological deterioration of PMEs through a better knowledge of the pathogenetic process. This is a review on the newest therapeutic options for the treatment of PMEs.

Areas covered: Experimental and clinical results on novel therapeutic approaches for the different forms of PME are reviewed and discussed. Special attention is primarily focused on the efficacy and tolerability outcomes, trying to infer the role novel approaches may have in the future.

Expert opinion: The large heterogeneity of disease-causing mechanisms prevents researchers from identifying a single approach to treat PMEs. Understanding of pathophysiologic processes is leading the way to targeted therapies, which, through enzyme replacement or underlying gene defect correction have already proved to potentially strike on neurodegeneration.

KEYWORDS:

• Epilepsy
• progressive myoclonus
• genetics
• treatments
• neurodegeneration
• precision medicine

Article highlights

• Progressive myoclonus epilepsies (PMEs) are a heterogeneous group of disabling, neurodegenerative disorders, affecting children and adults.

• Palliative treatments, mainly directed towards symptoms control, remain essential to improve patients’ quality of life.

• Target therapies have the potential to curb neurological deterioration through a better understanding of PMEs’ finest pathogenetic processes.

Declaration of interest

P Striano has served on a scientific advisory board for the Italian Agency of the Drug (AIFA); has received honoraria from GW pharma, Kolfarma s.r.l., and Eisai Inc.; and has received research support from the Italian Ministry of Health and Fondazione San Paolo. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or conflict with the subject matter or materials discussed in this manuscript apart from those disclosed.

Reviewer disclosures

A reviewer on this manuscript has received travel grants, speaker’s, or consultancy fees from EISAI, UCB, Sanofi, Livanova. Peer reviewers on this manuscript have no other relevant financial relationships or otherwise to disclose.

Additional information

Funding

-This work was developed within the framework of the DINOGMI Department of Excellence of MIUR 2018-2022 (legge 232 del 2016).