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臨床研究支援部 部長

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Hirofumi KOMAKI, MD, PhD

博士(医学)、日本小児神経学会専門医、日本小児科学会専門医、人類遺伝専門医、日本臨床薬理学会指導医

プロフィール

 福岡県出身、1990年熊本大学医学部卒業、1996年より当施設に勤務、病院で臨床研修、神経研究所で基礎研究を学ぶ。2003年より病院小児神経科医師として診療、臨床研究に従事。2011年より精神・神経疾患研究開発費筋ジストロフィー臨床研究班班長、2012年より筋ジストロフィー臨床試験ネットワーク事務局代表を担っている。現在トランスレーショナル・メディカルセンター長のほか、病院臨床研究推進部部長、筋疾患センター長を併任している。

興味・関心テーマ

  • 1) 臨床研究支援
  • 2) 小児神経学
  • 3) 臨床筋肉病学、臨床遺伝学

当センターにおける効率的かつ効果的な臨床研究支援体制(Academic Research Organization: ARO)の構築に寄与したいと考えています。標準的診療(現在提供可能な治療法、ケア)を基盤として,臨床研究・治験を展開していくことで医療全体の向上を目指していくことを大きな目標としています。特に筋ジストロフィーなどの希少疾病の新しい医療ならびに開発モデルを提案していきたい。

Selected Publications

  • Komaki H, Nagata T, Saito T, Masuda S, Takeshita E, Sasaki M, Tachimori H, Nakamura H, Aoki Y, Takeda S. Systemic administration of the morpholino antisense NS-065/NCNP-01 for exon-53 skipping in Duchenne muscular dystrophy: A phase I study. Science translational medicine. In press
  • Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, Sasaki M, Mimaki M, Goto YI, Nishino I. NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy. Clin Genet. 2018 Jan 17.
  • Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C; DEMAND III study group. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord. 2018;28:4-15.
  • Ogasawara M, Ishiyama A, Sugiura A, Segawa K, Nonaka I, Takeshita E, Shimizu-Motohashi Y, Komaki H, Sasaki M. Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome. Brain Dev. 2018;40:339-342.
  • Segawa K, Komaki H,Mori-Yoshimura M, Oya Y, Kimura K, Tachimori H, Kato N, Sasaki M, Takahashi Y. Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy. Medicine (Baltimore). 2017;96:e8335.
  • Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I. Comprehensive analysis for genetic  diagnosis of Dystrophinopathies in Japan. Orphanet J Rare Dis. 2017;12:149.
  • Takeuchi F, Komaki H, Yamagata Z, Maruo K, Rodger S, Kirschner J, Kubota T, Kimura E, Takeda S, Gramsch K, Vry J, Bushby K, Lochmüller H, Wada K, Nakamura H. A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.  Neuromuscul Disord. 2017;27:894-904.
  • Takeshita E, Minami N, Minami K, Suzuki M, Awashima T, Ishiyama A, Komaki H, Nishino I, Sasaki M. Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions. Neuromuscul Disord. 2017;27:569-573.
  • Matsuzaka Y, Tanihata J, Komaki H, Ishiyama A, Oya Y, Rüegg U, Takeda SI, Hashido K. Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice. PLoS One. 2016;11:e0167811.
  • Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I. Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford). 2017;56:287-293.
  • Shimizu R, Ogata K, Tamaura A, Kimura E, Ohata M, Takeshita E, Nakamura H, Takeda S, Komaki H. Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. BMC Health Serv Res. 201611;16:241.
  • Shimizu-Motohashi Y, Miyatake S, Komaki H, Takeda S, Aoki Y. Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials. Am J Transl Res. 2016 Jun 15;8:2471-89.
  • Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Hum Mutat. 2016;37:1051-9. 
  • Kimura K, Morita H, Daimon M, Horio M, Kawata T, Nakao T, Hirokawa M, Kitao R, Watanabe D, Komori T, Nagata T, Takeda S, Komaki H, Segawa K, Nakajima T, Takenaka K, Komuro I. Utility of Cystatin C for Estimating Glomerular Filtration Rate in Patients With Muscular Dystrophy. Int Heart J. 2016;57:386-8.
  • Goto M, Komaki H, Takeshita E, Abe Y, Ishiyama A, Sugai K, Sasaki M, Goto Y, Nonaka I. Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan. Brain Dev. 2016;38:785-91.
  • Takeuchi F, Komaki H, Nakamura H, Yonemoto N, Kashiwabara K, Kimura E, Takeda S. Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle Nerve. 2016;54:673-80.
  • Koichihara R, Saito T, Ishiyama A, Komaki H, Yuasa S, Saito Y, Nakagawa E, Sugai K, Shiihara T, Shioya A, Saito Y, Higuchi Y, Hashiguchi A, Takashima H, Sasaki M. A mild case of giant axonal neuropathy without central nervous system manifestation. Brain Dev. 2016;38(3):350-3.
  • Motoki T, Shimizu-Motohashi Y, Komaki H, Oya Y, Takeshita E, Ishiyama A, Saito T, Sugai K, Murata M, Sasaki M. Treatable rental failure found in non-ambulatory Duchenne muscular dystrophy patients. Neuromuscul Disord. In press.
  • Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK. A nationwide survey on Marinesco-Sjögren syndrome in Japan. Orphanet J Rare Dis. 2014; 9: 58-64.
  • Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, Kimura E, Takeda S. Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients. J Neurol. 2013; 260: 3023-9.
  • Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda S, Kawai M. Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet J Rare Dis. 2013; 8: 60-6.
  • Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene. Brain Dev. 2014; 36: 180-2.
  • Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry. 2013; 84: 982-8.
  • Yonekawa T, Komaki H, Saito Y, Takashima H, Sasaki M. Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene. Pediatr Neurol. 2013; 48: 59-62.
  • Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto Y, Sasaki M. Unusual exocrine complication of pancreatitis in mitochondrial disease. Brain Dev. 2013; 35: 654-9.
  • Kawabata T, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nishino I, Momomura M, Kizawa T, Imagawa T, Yokota S. A pediatric patient with myopathy associated with antibodies to a signal recognition particle. Brain Dev. 2012; 34: 877-80.
  • Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord. 2012; 22: 149-51.
  • Mizuno T, Komaki H, Sasaki M, Takanoha S, Kuroda K, Kon K, Mamiya S, Yoshioka M, Yatabe K, Mikata T, Ishihara T, Nakajima T, Watanabe H, Konagaya M, Mitani M, Konishi T, Tokita Y, Fukuda K, Tatara K, Maruta K, Imamura S, Shimazaki R, Ishikawa K, Saito T, Shinno S. Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev. 2012; 34: 756-62.
  • Shimizu-Fujiwara M, Komaki H, Nakagawa E, Mori-Yoshimura M, Oya Y, Fujisaki T, Tokita Y, Kubota N, Shimazaki R, Sato K, Ishikawa T, Goto K, Mochizuki H, Takanoha S, Ogata K, Kawai M, Konagaya M, Miyazaki T, Tatara K, Sugai K, Sasaki M. Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. Brain Dev. 2012; 34: 206-12.
  • Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I. Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. Neuromuscul Disord. 2012; 22: 162-5.
  • Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I. Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord. 2011; 21: 563-8.
  • Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I. Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscul Disord. 2011; 21: 489-93.
  • Mizuno T, Sasaki M, Komaki H, Sakuma H, Saito Y, Nakagawa E, Sugai K, Saito Y, Nonaka I, Sawaishi Y. A case of congenital axonal neuropathy associated with West syndrome. Brain Dev. 2011; 33: 692-6.
  • Hanai S, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Oya Y, Higurashi N, Hamano S. Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection. Brain Dev. 2011; 33: 161-5.
  • Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol. 2010; 68: 845-54.
  • Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M. Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Brain Dev. 2010; 32: 669-72.
  • Saeki K, Saito Y, Komaki H, Sakakibra T, Nakagawa E, Sugai K, Sakuma H, Sasaki M, Honda T, Hayashi H, Katori N, Miyahara Y. Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children. Brain Dev. 2010; 32: 556-63.
  • Miyahara-Katayama A, Ohya Y, Omi T, Komaki H, Nonaka I, Sato N, Sasaki M. A case of intraneural perineurioma presenting with monomelic atrophy in a child. Brain Dev. 2010; 32: 338-41.
  • Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. Biochim Biophys Acta. 2010; 1800: 313-5.
  • Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann Neurol. 2002; 51: 645-8.
  • Komaki H, Sugai K, Maehara T, Shimizu H. Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. Brain Dev. 2001; 23: 727-31.
  • Komaki H, Sasaki M, Yamamoto T, Iai M, Takashima S. Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation. Pediatr Neurol. 1999; 20: 309-11.
  • Komaki H, Maisawa S, Sugai K, Kobayashi Y, Hashimoto T. Tremor and seizures associated with chronic manganese intoxication. Brain Dev. 1999; 21: 122-4.
  • Komaki H, Sugai K, Sasaki M, Hashimoto T, Arai N, Takada E, Maehara T, Shimizu H. Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. Epilepsia. 1999; 40: 365-9.
  • Yamamoto T, Nanba E, Zhang H, Sasaki M, Komaki H, Takeshita K. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. Am J Med Genet. 1998; 75: 439-40.

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