Discussion
GNE myopathy, muscle disorder
ADVERSE EVENTS, GNE MYOPATHY, MUSCLE DISORDER
GNE myopathy is an orphan muscle disorder for which no treatment has been approved anywhere in the world [Consistent with observations from our previous phase I and phase II/III studies, and other clinical studies [In the present study, the primary endpoint was change in UEC score at Week 48, which was also employed as the primary endpoint in the international phase III study [Previously, the efficacy of SA-ER administration to patients with GNE myopathy was observed in the international phase II study [Regarding safety, most of the adverse events were mild or moderate in severity. Two serious adverse events were reported but considered unrelated to the study drug. Thus, the safety profile of SA-ER is considered acceptable, which is consistent with previous phase I studies [The present study has some limitations. First, owing to the rarity of GNE myopathy, a limited number of patients participated. Moreover, we added some inclusion criteria to minimize background variation in the study population. This decision may have affected statistical power to detect the difference between treatment groups. Because of the limited number of patients, a baseline deviation exists. Table In summary, the present phase III study in patients with GNE myopathy suggested a clinical benefit of orally administered SA-ER (6 g/day), with no safety concerns. Combined with our recent phase II/III study, oral aceneuramic acid is considered a promising therapeutic agent for mild GNE myopathy.