Treatment with metformin in twelve patients with Lafora disease.

ABSTRACT:

Background

Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect. For this reason, in 2016, the European Medicines Agency granted orphan designation to metformin for the treatment of LD. However, no clinical data is available thus far.

Methods

We retrospectively collected data on LD patients treated with metformin referred to three Italian epilepsy centres.

Results

Twelve patients with genetically confirmed LD (6 EPM2A, 6 NHLRC1) at middle/late stages of disease were treated with add-on metformin for a mean period of 18 months (range: 6-36). Metformin was titrated to a mean maintenance

SUBMITTER: Bisulli F 

PROVIDER: S-EPMC6588886 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature