Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

Abstract Background A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression. Methods We conducted a phase III, rando...

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Bibliographic Details
Main Authors: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GNE myopathy
Aceneuramic acid
Efficacy confirmation study
Ultra-orphan disease
Online Access:https://doi.org/10.1186/s13023-023-02850-y

Internet

https://doi.org/10.1186/s13023-023-02850-y

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