中村 治雅 なかむら はるまさ 先生

来歴等

略歴

1999年 京都府立医科大学医学部 医学科 卒業
1999年 京都大学医学部附属病院 内科、神経内科研修医
2000年 浜松労災病院（現・浜松ろうさい病院） 内科、神経内科研修医
2002年 国立精神・神経センター武蔵病院（現・国立精神・神経医療研究センター病院 ） 神経内科レジデントを経て医員
2005年 医薬品医療機器総合機構（PMDA） 新薬審査第3部審査専門員
2008年 Institute of Human Genetics, Newcastle University, U.K. 客員研究員
2011年 PMDA 新薬審査第3部審査役代理、オーファン医薬品ワーキンググループメンバー
2012年 国立精神・神経医療研究センター トランスレーショナル・メディカルセンター（TMC） 臨床研究支援室長
2014年 国立精神・神経医療研究センター トランスレーショナル・メディカルセンター（TMC） 臨床研究支援室長
2019年 国立研究開発法人 国立精神・神経医療研究センター病院 臨床研究・教育研修部門 臨床研究支援部長

論文

• 1. Development of a cost-effectiveness analysis model for Duchenne muscular dystrophy utilizing the national registry in Japan. Scientific reports.2025 Dec 17.

  Takuro Okada, Hirofumi Komaki, Takami Ishizuka, Mari Oba, Satoko Hori, Harumasa Nakamura.

• 2. Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial. Neuropsychopharmacology reports. 2025 Sep;45(3):e70043.

  Terumi Murakami, Takatoshi Sato, Takami Ishizuka, Harumasa Nakamura, Hisateru Tachimori, Hiroko Harada, Hideki Oi, Kenji Hatano, Mari S Oba, Kumiko Ishiguro, Minobu Shichiji, Yuki Kihara, Yasuhiro Takeshima, Mariko Taniguchi-Ikeda, Ayako Hattori, Yuko Shimizu-Motohashi, Hiroyuki Awano, Ryosuke Bo, Satoru Nagata, Keiko Ishigaki.

• 3. Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan. Journal of neuromuscular diseases. 2025 Jul 22;12(6):22143602251356742-22143602251356742.

  Toshifumi Yokota, Naoto Inukai, Hiroyuki Shibasaki, Harumasa Nakamura, Shinnichi Yokota, Yoshitaka Nakamura, Rikako Yamauchi, Keiko Ishigami, Akitsu Hotta, Hideo Miki, Yoshitsugu Aoki.

• 4. Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: A nationwide analysis. Neuromuscular Disorders. 2025 Mar;50:105346-105346.

  Tsuyoshi Matsumura, Hiroya Hashimoto, Hotake Takizawa, Wakako Yoshioka, Madoka Mori-Yoshimura, Yoshihiko Saito, Ichizo Nishino, Harumasa Nakamura.

• 5. Current and future perspective of registry utilisation for regulatory settings in Japan: pharmaceuticals, medical devices, and regenerative medicine products. Journal of pharmaceutical policy and practice. 2025;18(1):2523935-2523935.

  Chieko Ishiguro, Yasutomo Teshima, Harumasa Nakamura.

• 6. Pragmatic Trialsについて NIH Pragmatic Trials Collaboratoryの活動と海外動向を踏まえた薬事制度下での活用に向けて. 薬理と治療. 2024 Dec;52(Suppl.2):s86-s92.

  中村 治雅, 岡本 摩耶, 上野 悟, 宮路 天平, 波多野 賢二, 小居 秀紀, 山口 拓洋.

• 7. Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan. Journal of Neurology. 2024 Jul;271(7):4453-4461.

  Wakako Yoshioka, Harumasa Nakamura, Mari Oba, Yoshihiko Saito, Ichizo Nishino, Madoka Mori-Yoshimura.

• 8. Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy). Orphanet journal of rare diseases. 2024 Apr 30;19(1):182-182.

  Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida, Harumasa Nakamura.

• 9. Efficacy and Safety of the Natural Killer T Cell-Stimulatory Glycolipid OCH-NCNP1 for Patients With Relapsing Multiple Sclerosis: Protocol for a Randomized Placebo-Controlled Clinical Trial. JMIR research protocols. 2024 Jan 15;13:e46709.

  Tomoko Okamoto, Takami Ishizuka, Reiko Shimizu, Yasuko Asahina, Harumasa Nakamura, Yuko Shimizu, Yoichiro Nishida, Takanori Yokota, Youwei Lin, Wakiro Sato, Takashi Yamamura.

• 10. Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. eClinicalMedicine. 2024 Jan;67:102390-102390.

  Masayuki Nakamori, Daisaku Nakatani, Tomoharu Sato, Yuhei Hasuike, Seiko Kon, Toshio Saito, Harumasa Nakamura, Masanori P. Takahashi, Eisuke Hida, Hirofumi Komaki, Tsuyoshi Matsumura, Hiroto Takada, Hideki Mochizuki.

• 11. Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. Orphanet journal of rare diseases. 2023 May 9;18(1):109-109.

  Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske, Laurie S Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G Nielsen, Anne R Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft.

• 12. Systemic administration of the antisense oligonucleotide NS ‐089/ NCNP ‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/ II clinical trial. Neuropsychopharmacology Reports. 2023 Apr 3;43(2):277-286.

  Takami Ishizuka, Hirofumi Komaki, Yasuko Asahina, Harumasa Nakamura, Norio Motohashi, Eri Takeshita, Yuko Shimizu‐Motohashi, Akihiko Ishiyama, Chihiro Yonee, Shinsuke Maruyama, Eisuke Hida, Yoshitsugu Aoki

• 13. First-in-human clinical trial of the NKT cell-stimulatory glycolipid OCH in multiple sclerosis. Therapeutic advances in neurological disorders. 2023;16:17562864231162153-17562864231162153.

  Wakiro Sato, Daisuke Noto, Manabu Araki, Tomoko Okamoto, Youwei Lin, Hiromi Yamaguchi, Ryoko Kadowaki-Saga, Atsuko Kimura, Yukio Kimura, Noriko Sato, Takami Ishizuka, Harumasa Nakamura, Sachiko Miyake, Takashi Yamamura.

• 14. Academic Productivity from Rare Neuromuscular Disease Registries: A Systematic Review. Journal of Rare Diseases Research & Treatment. 2022 Jul 20;7(2):5-15.

  Tran M. Nguyen, Matt Downs, Neil Bennett, Vitaliy Matyushenko, Harumasa Nakamura, Damjan Osredkar, Shiwen Wu, Nathalie Goemans, Anna Ambrosini, Rahsa El Sherifc, Craig Campbell.

• 15. Characteristics of myotonic dystrophy patients in the national registry of Japan. Journal of the neurological sciences. 2022 Jan 15;432:120080-120080.

  Marika Sugimoto, Satoshi Kuru, Hiroto Takada, Riho Horie, Kosuke Yamauchi, Tomoya Kubota, Tsuyoshi Matsumura, Harumasa Nakamura, En Kimura, Masanori P Takahashi.

• 16. Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan. Clinical neurology and neurosurgery.2022 Jan;212:107057-107057.

  Wakako Yoshioka, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Sumiko Yoshida, Nahoko Ishihara, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura.

• 17. Questionnaire survey on the impact of coronavirus disease 2019 on patients with muscular dystrophy. JOURNAL OF THE NEUROLOGICAL SCIENCES. 2021 Oct;429:62-63.

  Tsuyoshi Matsumura, Toshio Saito, Hiroto Takada, Katsuhisa Ogata, Satoshi Kuru, Akinori Nakamura, Hajime Arahata, Tohru Matsuura, Masanori Takahashi, Harumasa Nakamura.

• 18. A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy. Neuromuscular disorders. 2021 Sep;31(9):839-846.

  Tsuyoshi Matsumura, Hiroto Takada, Michio Kobayashi, Takashi Nakajima, Katsuhisa Ogata, Akinori Nakamura, Michinori Funato, Satoshi Kuru, Kiyonobu Komai, Naonobu Futamura, Yoshiki Adachi, Hajime Arahata, Takayasu Fukudome, Masatoshi Ishizaki, Shugo Suwazono, Masashi Aoki, Tohru Matsuura, Masanori P Takahashi, Yoshihide Sunada, Kouzou Hanayama, Hiroya Hashimoto, Harumasa Nakamura.

• 19. Comparison of Successful and Unsuccessful Cases of New Drug Approvals Based on the International Council on Harmonization E5 Guidelines in Japan. Clinical pharmacology in drug development. 2021 Sep;10(5):434-439.

  Ryuta Asada, Shinobu Shimizu, Harumasa Nakamura, Shunsuke Ono, Takuhiro Yamaguchi.

• 20. Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan. Orphanet journal of rare diseases. 2020 Sep 11;15(1):245-245.

  Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura.

• 21. Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oc eania. Brain & development. 2020 Mar;42(3):277-288.

  Fumi Takeuchi, Harumasa Nakamura, Naohiro Yonemoto, Hirofumi Komaki, Raymond L Rosales, Andrew J Kornberg, Allan H Bretag, Charungthai Dejthevaporn, Khean Jin Goh, Yuh-Jyh Jong, Dae-Seong Kim, Satish V Khadilkar, Dingguo Shen, Kum Thong Wong, Josiah Chai, Sophelia Hoi-Shan Chan, Sara Khan, Ohnmar Ohnmar, Ichizo Nishino, Shin'ichi Takeda, Ikuya Nonaka.

• 22. Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Human genetics. 2020 Feb;139(2):247-255.

  Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino

• 23. Assessment of disease progression in dysferlinopathy: A 1-year cohort study National registry of patients with Fukuyama congenital muscular dystrophy in Japan. Neuromuscular disorders. 2018 Oct;28(10):885-893.

  Keiko Ishigaki, Chikoto Ihara, Harumasa Nakamura, Madoka Mori-Yoshimura, Kazushi Maruo, Mariko Taniguchi-Ikeda, En Kimura, Terumi Murakami, Takatoshi Sato, Tatsushi Toda, Hisanobu Kaiya, Makiko Osawa.

• 24. Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Science translational medicine. 2018 Apr 18;10(437).

  Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda.

• 25. Identification of approval conditions for orphan drugs for neurological disorders by the Japanese regulatory agency. EXPERT OPINION ON ORPHAN DRUGS. 2018;6(7):441-447.

  Nakamura Harumasa, Takeda Shin'ichi, Iwasaki Masaru.

• 26. A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis. Neuromuscular disorders. 2017 Oct;27(10):894-904.

  Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura.

• 27. Trends in steroid therapy for Duchenne muscular dystrophy in Japan.Muscle & nerve. 2016 Oct;54(4):673-80.

  Fumi Takeuchi, Hirofumi Komaki, Harumasa Nakamura, Naohiro Yonemoto, Kousuke Kashiwabara, En Kimura, Shin'ichi Takeda.

• 28. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. BMC health services research. 2016 Jul;16:241-241.

  Reiko Shimizu, Katsuhisa Ogata, Akemi Tamaura, En Kimura, Maki Ohata, Eri Takeshita, Harumasa Nakamura, Shin'ichi Takeda, Hirofumi Komaki.

• 29. Nationwide patient registry for GNE myopathy in Japan.Orphanet journal of rare diseases. 2014 Oct 11;9:150-150.

  Murata, Shin'ichi Takeda, Ichizo Nishino, En Kimura.

• 30. Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients. Journal of neurology. 2013 Dec;260(12):3023-9.

  Fumi Takeuchi, Naohiro Yonemoto, Harumasa Nakamura, Reiko Shimizu, Hirofumi Komaki, Madoka Mori-Yoshimura, Yukiko K Hayashi, Ichizo Nishino, Mitsuru Kawai, En Kimura, Shin'ichi Takeda.

• 31. Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet journal of rare diseases. 2013 Apr 19;8:60-60.

  Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin'ichi Takeda, Mitsuru Kawai.