Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

ABSTRACT:

Background

GNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants in the GNE gene. No treatment has been established so far.

Objective

We evaluated the safety and efficacy of oral supplementation of aceneuramic acid in patients with GNE myopathy.

Methods

This multicenter, placebo-controlled, double-blind study comprised genetically confirmed GNE myopathy patients in Japan who were randomly assigned into treatment groups of sialic acid-extended release (SA-ER) tablets (6 g/day for 48 weeks) or placebo groups (4:1). The primary endpoint of effectiveness was set as the change in total upper limb muscle strength (upper extremity composite [UEC] score) from the start of administration to th

SUBMITTER: Suzuki N 

PROVIDER: S-EPMC10357206 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature