Nov 18, 2019

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions

Stéphane AuvinJ Helen Cross


Rare diseases provide a challenge in the evaluation of new therapies. However, orphan drug development is of increasing interest because of the legislation enabling facilitated support by regulatory agencies through scientific advice, and the protection of the molecules with orphan designation. In the landscape of the rare epilepsies, very few syndromes, namely Dravet syndrome, Lennox-Gastaut syndrome and West syndrome, have been subject to orphan drug development. Despite orphan designations for rare epilepsies having dramatically increased in the past 10 years, the number of approved drugs remains limited and restricted to a handful of epilepsy syndromes. In this paper, we describe the current state of orphan drug development for rare epilepsies. We identified a large number of compounds currently under investigation, but mostly in the same rare epilepsy syndromes as in the past. A rationale for further development in rare epilepsies could be based on the match between the drug mechanisms of action and the knowledge of the causative gene mutation or by evidence from animal models. In case of the absence of strong pathophysiological hypotheses, exploratory/basket clinical studies could be helpful to identify a subpopulation th...Continue Reading

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Mentioned in this Paper

Drugs, Orphan
Infantile Severe Myoclonic Epilepsy
Gene Mutation
Pharmacologic Substance
Lennox-Gastaut syndrome
Clinical Research
Compound (Substance)
Infantile Spasms

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