Abstract:

Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause GNE myopathy, a mildly progressive autosomal recessive myopathy. We performed a prospective natural history study in 24 patients with GNE myopathy to select evaluation tools for use in upcoming clinical trials. Patient clinical conditions were evaluated at study entry and one-year follow-up. Of the 24 patients, eight (33.3%) completed a standard 6-min walk test without assistance. No cardiac events were observed. Summed manual muscle testing of 17 muscles, grip power, and percent force vital capacity (%FVC) were significantly reduced (p<0.05), and scores for 6-min walk test and gross motor function measure were decreased (p<0.1) after one year. The decrement in %FVC was significant among non-ambulant patients, whereas the decrement in grip power tended to be greater among ambulant patients. The 6-min walk test, gross motor function measure, manual muscle testing, grip power, and %FVC reflect annual changes and are thus considered good evaluation tools for clinical trials.

日本語要旨:

国内外でGNEミオパチー(縁どり空胞を伴う遠位型ミオパチー)患者を対象とした臨床治験の準備が進んでいる。きたる臨床試験で用いる評価尺度を選別するために、GNEミオパチー患者24名を対象に、後方視的な自然歴調査を行った。その結果、6分間歩行テスト、徒手筋力テスト、粗大運動能力尺度、握力テスト、%予想努力性肺活量が治験の臨床評価尺度として有用で、病気の進行度をよく反映していることが判明した。またこの研究は、GNEミオパチーの後方視的自然歴調査としては初めての報告であり、GNEミオパチーは基本的に進行性の疾患であるが、心機能は侵されないことが明らかになった。