Spinal muscular atrophy - challenges in the therapeutic era

被引：3

作者：

Faravelli, Irene ^{[1
]}

Corti, Stefania ^{[1
,2
]}

机构：

[1] Univ Milan, Dino Ferrari Ctr, Neurosci Sect, Dept Pathophysiol & Transplantat DEPT, Milan, Italy

[2] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy

来源：

NATURE REVIEWS NEUROLOGY | 2020年 / 16卷 / 12期

关键词：

NUSINERSEN;

D O I：

10.1038/s41582-020-00411-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

With the advent of disease-modifying therapies for spinal muscular atrophy, prenatal and extra-neural alterations associated with the condition have garnered increasing attention as potential determinants of the therapeutic window and efficacy of novel drugs. Two recent studies highlight the impact of spinal muscular atrophy on prenatal bone and organ development.

引用

页码：655 / 656

页数：2

共 10 条

[1] 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

[2] 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

[3] Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study [J].

Finkel, Richard S. ;

Chiriboga, Claudia A. ;

Vajsar, Jiri ;

Day, John W. ;

Montes, Jacqueline ;

De Vivo, Darryl C. ;

Yamashita, Mason ;

Rigo, Frank ;

Hung, Gene ;

Schneider, Eugene ;

Norris, Daniel A. ;

Xia, Shuting ;

Bennett, C. Frank ;

Bishop, Kathie M. .

LANCET, 2016, 388 (10063) :3017-3026

[4] Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy [J].

Hensel, Niko ;

Brickwedde, Hermann ;

Tsaknakis, Konstantinos ;

Grages, Antonia ;

Braunschweig, Lena ;

Luders, Katja A. ;

Lorenz, Heiko M. ;

Lippross, Sebastian ;

Walter, Lisa M. ;

Tavassol, Frank ;

Lienenklaus, Stefan ;

Neunaber, Claudia ;

Claus, Peter ;

Hell, Anna K. .

HUMAN MOLECULAR GENETICS, 2020, 29 (16) :2662-2673

[5] Translational Feasibility of Lumbar Puncture for Intrathecal AAV Administration [J].

Hinderer, Christian ;

Katz, Nathan ;

Dyer, Cecilia ;

Goode, Tamara ;

Johansson, Julia ;

Bell, Peter ;

Richman, Laura ;

Buza, Elizabeth ;

Wilson, James M. .

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT, 2020, 17 :969-974

[6] Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model [J].

Hua, Yimin ;

Sahashi, Kentaro ;

Rigo, Frank ;

Hung, Gene ;

Horev, Guy ;

Bennett, C. Frank ;

Krainer, Adrian R. .

NATURE, 2011, 478 (7367) :123-126

[7] 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

[8] Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy [J].

Mendell, J. R. ;

Al-Zaidy, S. ;

Shell, R. ;

Arnold, W. D. ;

Rodino-Klapac, L. R. ;

Prior, T. W. ;

Lowes, L. ;

Alfano, L. ;

Berry, K. ;

Church, K. ;

Kissel, J. T. ;

Nagendran, S. ;

L'Italien, J. ;

Sproule, D. M. ;

Wells, C. ;

Cardenas, J. A. ;

Heitzer, M. D. ;

Kaspar, A. ;

Corcoran, S. ;

Braun, L. ;

Likhite, S. ;

Miranda, C. ;

Meyer, K. ;

Foust, K. D. ;

Burghes, A. H. M. ;

Kaspar, B. K. .

NEW ENGLAND JOURNAL OF MEDICINE, 2017, 377 (18) :1713-1722

[9] Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy [J].

Motyl, Anna A. L. ;

Faller, Kiterie M. E. ;

Groen, Ewout J. N. ;

Kline, Rachel A. ;

Eaton, Samantha L. ;

Ledahawsky, Leire M. ;

Chaytow, Helena ;

Lamont, Douglas J. ;

Wishart, Thomas M. ;

Huang, Yu-Ting ;

Gillingwater, Thomas H. .

HUMAN MOLECULAR GENETICS, 2020, 29 (16) :2674-2683

[10] Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment [J].

Ramos, Daniel M. ;

d'Ydewalle, Constantin ;

Gabbeta, Vijayalakshmi ;

Dakka, Amal ;

Klein, Stephanie K. ;

Norris, Daniel A. ;

Matson, John ;

Taylor, Shannon J. ;

Zaworski, Phillip G. ;

Prior, Thomas W. ;

Snyder, Pamela J. ;

Valdivia, David ;

Hatem, Christine L. ;

Waters, Ian ;

Gupte, Nikhil ;

Swoboda, Kathryn J. ;

Rigo, Frank ;

Bennett, C. Frank ;

Naryshkin, Nikolai ;

Paushkin, Sergey ;

Crawford, Thomas O. ;

Sumner, Charlotte J. .

JOURNAL OF CLINICAL INVESTIGATION, 2019, 129 (11) :4817-4831

← 1 →