Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions

被引:14
作者
Chan, Sophelia Hoi-Shan [1 ]
Chae, Jong-Hee [2 ,3 ]
Chien, Yin-Hsiu [4 ]
Ko, Tae-Sung [5 ]
Lee, Jee Hun [6 ]
Lee, Yun Jeong [7 ]
Nam, Sang Ook [8 ]
Jong, Yuh-Jyh [9 ,10 ,11 ,12 ,13 ]
机构
[1] Univ Hong Kong, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China
[2] Seoul Natl Univ, Coll Med, Childrens Hosp, Dept Pediat, Seoul, South Korea
[3] Seoul Natl Univ Hosp, Rare Dis Ctr, Seoul, South Korea
[4] Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei, Taiwan
[5] Univ Ulsan, Coll Med, Childrens Hosp, Dept Pediat,Asan Med Ctr, Seoul, South Korea
[6] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul, South Korea
[7] Kyungpook Natl Univ, Coll Med, Kyungpook Natl Univ Hosp, Dept Pediat, Daegu, South Korea
[8] Pusan Natl Univ, Coll Med, Childrens Hosp, Dept Pediat, Yangsan, South Korea
[9] Kaohsiung Med Univ, Kaohsiung Univ Med Hosp, Dept Pediat, Kaohsiung, Taiwan
[10] Kaohsiung Med Univ, Kaohsiung Univ Med Hosp, Dept Lab Med, Kaohsiung, Taiwan
[11] Kaohsiung Med Univ, Kaohsiung Univ Med Hosp, Translat Res Ctr Neuromuscular Dis, Kaohsiung, Taiwan
[12] Kaohsiung Med Univ, Coll Med, Grad Inst Clin Med, Kaohsiung, Taiwan
[13] Natl Chiao Tung Univ, Dept Biol Sci & Technol, Hsinchu, Taiwan
关键词
spinal muscular atrophy;
D O I
10.1136/jnnp-2020-324532
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1244 / 1246
页数:3
相关论文
共 5 条
[1]   Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening [J].
Chien, Yin-Hsiu ;
Chiang, Shu-Chuan ;
Weng, Wen-Chin ;
Lee, Ni-Chung ;
Lin, Ching-Jie ;
Hsieh, Wu-Shiun ;
Lee, Wang-Tso ;
Jong, Yuh-Jyh ;
Ko, Tsang-Ming ;
Hwu, Wuh-Liang .
JOURNAL OF PEDIATRICS, 2017, 190 :124-+
[2]   Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study [J].
De Vivo, Darryl C. ;
Bertini, Enrico ;
Swoboda, Kathryn J. ;
Hwu, Wuh-Liang ;
Crawford, Thomas O. ;
Finkel, Richard S. ;
Kirschner, Janbernd ;
Kuntz, Nancy L. ;
Parsons, Julie A. ;
Ryan, Monique M. ;
Butterfield, Russell J. ;
Topaloglu, Haluk ;
Ben-Omran, Tawfeg ;
Sansone, Valeria A. ;
Jong, Yuh-Jyh ;
Shu, Francy ;
Staropoli, John F. ;
Kerr, Douglas ;
Sandrock, Alfred W. ;
Stebbins, Christopher ;
Petrillo, Marco ;
Braley, Gabriel ;
Johnson, Kristina ;
Foster, Richard ;
Gheuens, Sarah ;
Bhan, Ishir ;
Reyna, Sandra P. ;
Fradette, Stephanie ;
Farwell, Wildon .
NEUROMUSCULAR DISORDERS, 2019, 29 (11) :842-856
[3]   Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy [J].
Finkel, R. S. ;
Mercuri, E. ;
Darras, B. T. ;
Connolly, A. M. ;
Kuntz, N. L. ;
Kirschner, J. ;
Chiriboga, C. A. ;
Saito, K. ;
Servais, L. ;
Tizzano, E. ;
Topaloglu, H. ;
Tulinius, M. ;
Montes, J. ;
Glanzman, A. M. ;
Bishop, K. ;
Zhong, Z. J. ;
Gheuens, S. ;
Bennett, C. F. ;
Schneider, E. ;
Farwell, W. ;
De Vivo, D. C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2017, 377 (18) :1723-1732
[4]   Natural history of infantile-onset spinal muscular atrophy [J].
Kolb, Stephen J. ;
Coffey, Christopher S. ;
Yankey, Jon W. ;
Krosschell, Kristin ;
Arnold, W. David ;
Rutkove, Seward B. ;
Swoboda, Kathryn J. ;
Reyna, Sandra P. ;
Sakonju, Ai ;
Darras, Basil T. ;
Shell, Richard ;
Kuntz, Nancy ;
Castro, Diana ;
Parsons, Julie ;
Connolly, Anne M. ;
Chiriboga, Claudia A. ;
McDonald, Craig ;
Burnette, W. Bryan ;
Werner, Klaus ;
Thangarajh, Mathula ;
Shieh, Perry B. ;
Finanger, Erika ;
Cudkowicz, Merit E. ;
McGovern, Michelle M. ;
McNeil, D. Elizabeth ;
Finkel, Richard ;
Iannaccone, Susan T. ;
Kaye, Edward ;
Kingsley, Allison ;
Renusch, Samantha R. ;
McGovern, Vicki L. ;
Wang, Xueqian ;
Zaworski, Phillip G. ;
Prior, Thomas W. ;
Burghes, Arthur H. M. ;
Bartlett, Amy ;
Kissel, John T. .
ANNALS OF NEUROLOGY, 2017, 82 (06) :883-891
[5]   Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy [J].
Lowes, Linda P. ;
Alfano, Lindsay N. ;
Arnold, W. David ;
Shell, Richard ;
Prior, Thomas W. ;
McColly, Markus ;
Lehman, Kelly J. ;
Church, Kathleen ;
Sproule, Douglas M. ;
Nagendran, Sukumar ;
Menier, Melissa ;
Feltner, Douglas E. ;
Wells, Courtney ;
Kissel, John T. ;
Al-Zaidy, Samiah ;
Mendell, Jerry .
PEDIATRIC NEUROLOGY, 2019, 98 :39-45