{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:46:16Z","timestamp":1790801176382,"version":"4.1.0"},"reference-count":30,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,7,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>We evaluated the safety and efficacy of oral supplementation of aceneuramic acid in patients with GNE myopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>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\u200ag\/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 the final evaluation time point.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Among the 20 enrolled patients (SA-ER group, 16; placebo group, 4), 19 completed this 48-week study. The mean value of change in UEC score (95% confidence interval [CI]) at 48 weeks was \u20130.1\u200akg (\u20132.1 to 2.0) in the SA-ER group and \u20135.1\u200akg (\u201310.4 to 0.3) in the placebo group. The least squares mean difference (95% CI) between the groups in the covariance analysis was 4.8\u200akg (\u20130.3 to 9.9; P\u200a=\u200a0.0635). The change in UEC score at 48 weeks was significantly higher in the SA-ER group compared with the placebo group ( P\u200a=\u200a0.0013) in the generalized estimating equation test repeated measurement analysis. In one patient in the SA-ER group, who was found to be pregnant 2 weeks after drug administration fetal death with tangled umbilical cord occurred at 13 weeks after the discontinuation of treatment. No other serious adverse effects were observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The present study indicates that oral administration of SA-ER tablets is effective and safe in patients with GNE myopathy in Japan.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230029","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T12:36:56Z","timestamp":1682426216000},"page":"555-566","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":27,"title":["Phase II\/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan"],"prefix":"10.1177","volume":"10","author":[{"given":"Naoki","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Mori-Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahisa","family":"Katsuno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Hospital, Nagoya, Japan"},{"name":"Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori P.","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Osaka University Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kumamoto University 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