VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.

ABSTRACT:

Introduction

Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which lead to the accumulation of polyglucosans in the brain and neurodegeneration. There are no approved treatments for LD. VAL-1221 is a fusion protein comprising the Fab portion of a cell-penetrating antibody and recombinant human acid alpha glucosidase, and has demonstrated an ability to clear polyglucosans. We hypothesise that intravenous infusion of VAL-1221 might be able to degrade cerebral polyglucosans and stabilise or improve disease outcomes. The aim of this study is to assess the safety and preliminary efficacy of VAL-1221 in patients with LD.

Methods and analysis

SUBMITTER: Muccioli L 

PROVIDER: S-EPMC11492954 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature