Session Details

[O2]一般演題(口演)2 末梢神経・筋②

Thu. Jun 5, 2025 2:35 PM - 3:35 PM JST
Thu. Jun 5, 2025 5:35 AM - 6:35 AM UTC
第2会場
座長:池田(谷口) 真理子(高知大学医学部小児科),元木 崇裕(愛媛大学医学部小児科)

[O2-01]Prednisolone Inhibits Titin Degradation in Myocytes from Patients with Duchenne Muscular Dystrophy

Masafumi Matsuo1, Tomoko Horiguchi2, Atsuko Takeuchi2, Kayo Osawa2, Taku Shirakawa2, Aiko Sunami2, Yoshinori Namb3, Hisahide Nishio4 (1.Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan, 2.Kobe Tokiwa University, Kobe Japan, 3.Graduate School of Medicine, Kobe University, Kobe Japan, 4.Kobe Gakuin University, Kobe, Japan)

[O2-02]Efficacy of risdiplam administration to spinal muscular atrophy patients

Toshio Saito1, Hisahide Nishio2 (1.Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan, 2.aculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan)

[O2-03]Safety of risdiplam in Japanese Patients with spinal muscular atrophy: Interim Analysis of Post-Marketing Surveillance

Kayoko Saito1, Toshio Saito2, Reiko Arakawa3, Yasuhiro Takeshima4, Hisahide Nishio5, Yuka Ishikawa6, Masahisa Katsuno7, Takahiko Tsumuraya8, Hiromitsu Kawata9, Yuki Miyano8, Hirofumi Komaki10 (1.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2.Division of Child Neurology, Department of Neurology, Osaka Toneyama Medical Center, Osaka, Japan, 3.Department of Genomic Medicine, National Center for Global Health and Medicine, Tokyo, Japan, 4.Department of Pediatrics, Hyogo Medical University Hospital, Hyogo, Japan, 5.Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan, 6.Center for Neuromuscular Disease, Child Health and Development, National Hospital Organization, Hokkaido Medical Center, Sapporo, Hokkaido, Japan, 7.Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 8.Drug Safety Division, Chugai Pharmaceutical Co., Ltd., Tokyo, Japan, 9.Medical Affairs Division, Chugai Pharmaceutical Co., Ltd., Tokyo, Japan, 10.Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O2-04]FIREFISH Parts 1 and 2: 5-year efficacy and safety of risdiplam in Type I SMA

Yasuhiro Takeshima1, Giovanni Baranello2, Riccardo Masson3, Maria Mazurkiewicz-Beldzinska4, Eugenio Mercuri5, Laurent Servais6, Hui Xiong7, Edmar Zanoteli8, Muna El-Khairi9, Marianne Gerber9, Laura Palfreeman9, Basil T Darras10 (1.Department of Pediatrics, Hyogo College of Medicine, Japan, 2.Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK, 3.Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, 4.Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland, 5.Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy, 6.MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom, 7.Department of Pediatrics, Peking University First Hospital, Beijing, China, 8.Department of Neurology, Faculdade de Medicina, Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil, 9.F. Hoffmann-La Roche Ltd., Basel, Switzerland, 10.Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA)

[O2-05]Clinical features of children with paramyotonia congenita caused by SCN4A mutation.

Ken Nakajima1, Takuya Horibe1, Nahoko Yamazaki1, Keisuke Oki1, Tomokazu Kimizu1, Yasuhito Tominaga1, Yukiko Mogami1, Keiko Yanagihara1, Nobuhiko Okamoto2 (1.Department of Pediatric Neurology, Osaka Women's and Children's hospital, Izumishi, Osaka, 2.Department of Medical Genetics, Osaka Women's and Children's hospital, Izumishi, Osaka)

[O2-06]A case of a girl with X-linked myotubular myopathy due to a novel splice site variant heterozygous for the MTM1 gene

Saki Takeda1, Tomoko Lee1, Saeka Yoshitake1, Yuki Terakita1, Yoko Yokoyama1, Eisuke Terasaki1, Miki Matsui1, Sachi Tokunaga1, Naoko Taniguchi1, Hideki Shimomura1, Makiko Toyoura2, Ichizo Nishino3, Yasuhiro Takeshima1 (1.Department of Pediatrics, Hyogo Medical University Hospital, Hyogo, Japan, 2.Hyogo Prefectural Central Rehabilitation Hospital, Hyogo, Japan, 3.National Center of Neurology and Psychiatry, Tokyo, Japan)