Translational medicine in neuromuscular disorders: from academia to industry

被引：18

作者：

Cowling, Belinda S. ^{[1
]}

Thielemans, Leen ^{[1
,2
]}

机构：

[1] Pole API, Dynacure, F-67400 Illkirch Graffenstaden, France

[2] 2 Bridge, B-2980 Zoersel, Belgium

来源：

DISEASE MODELS & MECHANISMS | 2020年 / 13卷 / 02期

关键词：

Translational research; Neuromuscular disease; Therapy; Drug development; SINGLE NUCLEOTIDE; DYSTROPHIN; PHENOTYPE; DELIVERY;

D O I：

10.1242/dmm.041434

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Although around half of US Food and Drug Administration (FDA)-approved drugs originate from discoveries made in academic research laboratories, the US National Institutes of Health (NIH) estimates that nearly 90% of therapies developed in preclinical stages never reach clinical trials. From those in clinical trials, only 10% obtain marketing approval. Despite the recent advances in our understanding and diagnosis of neuromuscular disease, and the development of rational therapies in clinical trials, these numbers have not changed dramatically over the past two decades. This article discusses the advantages and challenges for translational research initiated from academia. and the trend towards bridging the gap between discovery and translation to the clinic. A focus is made on recent advances in therapeutic development for neuromuscular disorders.

引用

页数：6

共 29 条

[1] Theoretic Applicability of Antisense-Mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations [J].

Aartsma-Rus, Annemieke ;

Fokkema, Ivo ;

Verschuuren, Jan ;

Ginjaar, Leke ;

van Deutekom, Judith ;

van Ommen, Gert-Jan ;

den Dunnen, Johan T. .

HUMAN MUTATION, 2009, 30 (03) :293-299

[2]

Aitken M, 2018, Understanding neuromuscular disease care: current state and future prospects

[3] Prevalence of Congenital Myopathies in a Representative Pediatric United States Population [J].

Amburgey, Kimberly ;

McNamara, Nancy ;

Bennett, Lindsey R. ;

McCormick, M. Eileen ;

Acsadi, Gyula ;

Dowling, James J. .

ANNALS OF NEUROLOGY, 2011, 70 (04) :662-665

[4] Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [J].

Amoasii, Leonela ;

Hildyard, John C. W. ;

Li, Hui ;

Sanchez-Ortiz, Efrain ;

Mireault, Alex ;

Caballero, Daniel ;

Harron, Rachel ;

Stathopoulou, Thaleia-Rengina ;

Massey, Claire ;

Shelton, John M. ;

Bassel-Duby, Rhonda ;

Piercy, Richard J. ;

Olson, Eric N. .

SCIENCE, 2018, 362 (6410) :86-90

[5] Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy [J].

Amoasii, Leonela ;

Long, Chengzu ;

Li, Hui ;

Mireault, Alex A. ;

Shelton, John M. ;

Sanchez-Ortiz, Efrain ;

McAnally, John R. ;

Bhattacharyya, Samadrita ;

Schmidt, Florian ;

Grimm, Dirk ;

Hauschka, Stephen D. ;

Bassel-Duby, Rhonda ;

Olson, Eric N. .

SCIENCE TRANSLATIONAL MEDICINE, 2017, 9 (418)

[6] The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) [J].

Bonne, Gisele ;

Rivier, Francois ;

Hamroun, Dalil .

NEUROMUSCULAR DISORDERS, 2017, 27 (12) :1152-1183

[7] AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis [J].

Buj-Bello, Anna ;

Fougerousse, Francoise ;

Schwab, Yannick ;

Messaddeq, Nadia ;

Spehner, Daniele ;

Pierson, Christopher R. ;

Durand, Muriel ;

Kretz, Christine ;

Danos, Olivier ;

Douar, Anne-Marie ;

Beggs, Alan H. ;

Schultz, Patrick ;

Montus, Marie ;

Denefle, Patrice ;

Mandel, Jean-Louis .

HUMAN MOLECULAR GENETICS, 2008, 17 (14) :2132-2143

[8] Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy [J].

Buono, Suzie ;

Ross, Jacob A. ;

Tasfaout, Hichem ;

Levy, Yotam ;

Kretz, Christine ;

Tayefeh, Leighla ;

Matson, John ;

Guo, Shuling ;

Kessler, Pascal ;

Monia, Brett P. ;

Bitoun, Marc ;

Ochala, Julien ;

Laporte, Jocelyn ;

Cowling, Belinda S. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2018, 115 (43) :11066-11071

[9] Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy [J].

Childers, Martin K. ;

Joubert, Romain ;

Poulard, Karine ;

Moal, Christelle ;

Grange, Robert W. ;

Doering, Jonathan A. ;

Lawlor, Michael W. ;

Rider, Branden E. ;

Jamet, Thibaud ;

Daniele, Nathalie ;

Martin, Samia ;

Riviere, Christel ;

Soker, Thomas ;

Hammer, Caroline ;

Van Wittenberghe, Laetitia ;

Lockard, Mandy ;

Guan, Xuan ;

Goddard, Melissa ;

Mitchell, Erin ;

Barber, Jane ;

Williams, J. Koudy ;

Mack, David L. ;

Furth, Mark E. ;

Vignaud, Alban ;

Masurier, Carole ;

Mavilio, Fulvio ;

Moullier, Philippe ;

Beggs, Alan H. ;

Buj-Bello, Anna .

SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (220)

[10] The Drug Repurposing Hub: a next-generation drug library and information resource [J].

Corsello, Steven M. ;

Bittker, Joshua A. ;

Liu, Zihan ;

Gould, Joshua ;

McCarren, Patrick ;

Hirschman, Jodi E. ;

Johnston, Stephen E. ;

Vrcic, Anita ;

Wong, Bang ;

Khan, Mariya ;

Asiedu, Jacob ;

Narayan, Rajiv ;

Mader, Christopher C. ;

Subramanian, Aravind ;

Golub, Todd R. .

NATURE MEDICINE, 2017, 23 (04) :405-+

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