Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD)

Rebecca Leary; Anne O. Oyewole; Katharine Bushby; Annemieke Aartsma-Rus

doi:10.1055/s-0037-1604110

Neuropediatrics, Table of Contents

Neuropediatrics 2017; 48(04): 211-220
DOI: 10.1055/s-0037-1604110

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD)

Rebecca Leary

¹John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom

,

Anne O. Oyewole

¹John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom

,

Katharine Bushby

¹John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom

,

Annemieke Aartsma-Rus

¹John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom

²Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

› Author Affiliations

Abstract

Translational research in Europe for the assessment and treatment of neuromuscular disorders (TREAT-NMD) is a global network of world-class experts within the neuromuscular community whose mission is to support all stages of therapy development and improve the health and quality of life of people around the world with neuromuscular disorders (NMD). Since 2007, TREAT-NMD has played a central role in bringing together the right experts, patients, advocacy organizations, scientists, healthcare professionals, and pharmaceutical companies. By uniting these experts within the neuromuscular community, TREAT-NMD has supported preclinical research in animal and cell models that has raised the potential for clinical trials. TREAT-NMD has successfully developed several key resources, including cell and animal standard operating protocols (preclinical research), global patient registries, ethical framework and care guidelines, and family guides, to help develop and extend translation research in the field, thereby making the field ready for clinical trials. This review aims to highlight key achievements of the network, which spans a decade and the successful partnership with our stakeholders who have enabled the field to identify and address challenges to therapeutic development and standard of care for patients. This review will also outline future perspectives.

Keywords

TREAT-NMD - neuromuscular disorders - translational research - muscular dystrophy - therapy

Full Text

References

References
1 Deenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. J Neuromuscul Dis 2015; 2 (01) 73-85
2 Emery AE. Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscul Disord 1991; 1 (01) 19-29
3 Bushby K, Lynn S, Straub T. ; TREAT-NMD Network. Collaborating to bring new therapies to the patient--the TREAT-NMD model. Acta Myol 2009; 28 (01) 12-15
4 TREAT-NMD Neuromuscular Network. Available at: www.treat-nmd.eu . Accessed June 28, 2017
5 TREAT-NMD Neuromuscular Network. Charter of the TREAT-NMD Alliance Established (1st January 2012); Amended (25th January 2016). Available at: http://www.treat-nmd.eu/downloads/file/TREAT-NMD%20Alliance%20Charter_Approved%20version_250116.pdf . Accessed June 28, 2017
6 Lochmüller H, Le Cam Y, Jonker AH. , et al. ‘IRDiRC recognized resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur J Hum Genet 2017; 25 (02) 162-165
7 Anthony K, Arechavala-Gomeza V, Taylor LE. , et al. Dystrophin quantification: biological and translational research implications. Neurology 2014; 83 (22) 2062-2069
8 TREAT-NMD Neuromuscular Network. Experimental protocols for DMD editorial models. Available at: http://www.treat-nmd.eu/research/preclinical/dmd-sops/ . Accessed June 28, 2017
9 TREAT-NMD Neuromuscular Network. Experimental protocol for SMA animal models. Available at: http://www.treat-nmd.eu/research/preclinical/sma-sops/ . Accessed June 28, 2017
10 Willmann R, Luca A, Nagaraju K, Rüegg MA. Best practices and standard protocols as a tool to enhance translation for neuromuscular disorders. J Neuromuscul Dis 2015; 2 (02) 113-117
11 TREAT-NMD Neuromuscular Network. Sops for CMD animal models. Available at: http://www.treat-nmd.eu/research/preclinical/cmd-sops/ . Accessed June 28, 2017
12 exonskipping.eu. COST Action Web site Available at: http://exonskipping.eu/ . Accessed June 28, 2017
13 Aartsma-Rus A. Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges. Nucleic Acid Ther 2014; 24 (01) 1-3
14 Muntoni F. ; Meeting Steering Committee and TREAT-NMD Network. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010; 20 (05) 355-362
15 Mora M, Angelini C, Bignami F. , et al. The EuroBioBank network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet 2015; 23 (09) 1116-1123
16 Bladen CL, Rafferty K, Straub V. , et al. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat 2013; 34 (11) 1449-1457
17 Vry J, Gramsch K, Rodger S. , et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences. J Neuromuscul Dis 2016; 3 (04) 517-527
18 Landfeldt E, Lindgren P, Bell CF. , et al. Compliance to care guidelines for Duchenne muscular dystrophy. J Neuromuscul Dis 2015; 2 (01) 63-72
19 Bladen CL, Salgado D, Monges S. , et al. The TREAT-NMD DMD global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015; 36 (04) 395-402
20 Bladen CL, Thompson R, Jackson JM. , et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol 2014; 261 (01) 152-163
21 Landfeldt E, Lindgren P, Bell CF. , et al. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology 2014; 83 (06) 529-536
22 Rodger S, Lochmüller H, Tassoni A. , et al. The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis 2013; 8: 171
23 Straub V, Balabanov P, Bushby K. , et al. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol 2016; 15 (08) 882-890
24 Klingels K, Mayhew AG, Mazzone ES. , et al; Upper Limb Clinical Outcome Group. Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD upper limb PROM. Dev Med Child Neurol 2017; 59 (02) 224-231
25 Lynn S, Aartsma-Rus A, Bushby K. , et al. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscul Disord 2015; 25 (01) 96-105
26 Mazzone ES, Mayhew A, Montes J. , et al. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 2017; 55 (06) 869-874
27 Mercuri E, Mayhew A, Muntoni F. , et al; TREAT-NMD Neuromuscular Network. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord 2008; 18 (11) 894-903
28 Ramsey D, Scoto M, Mayhew A. , et al. Revised Hammersmith scale for spinal muscular atrophy: a SMA specific clinical outcome assessment tool. PLoS One 2017; 12 (02) e0172346
29 Griggs RC, Herr BE, Reha A. , et al. Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve 2013; 48 (01) 27-31
30 Bushby K, Finkel R, Birnkrant DJ. , et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9 (02) 177-189
31 Bushby K, Finkel R, Birnkrant DJ. , et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9 (01) 77-93
32 Wang CH, Finkel RS, Bertini ES. , et al; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007; 22 (08) 1027-1049
33 Wang CH, Bonnemann CG, Rutkowski A. , et al; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010; 25 (12) 1559-1581
34 TREAT-NMD Neuromuscular Network. Questions received. PEC. 2017. Available at: http://www.treat-nmd.eu/resources/ethics/questions-received/ . Accessed June 28, 2017
35 TREAT-NMD Neuromuscular Network. Concern over stem cell therapy for SMA type 1 children. PEC. 2017. Available at: http://www.treat-nmd.eu/resources/ethics/stem-cell-sma/ . Accessed June 28, 2017
36 TREAT-NMD Neuromuscular Network. Open letter to journal editors about risk of overselling results in scientific journals. 2017. Available at: http://www.treat-nmd.eu/resources/ethics/open-letter/ . Accessed June 28, 2017
37 McCormack P, Woods S, Aartsma-Rus A. , et al. Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: “translating” the translational. PLoS Curr 2013; 5: pii
38 Aartsma-Rus A. The risks of therapeutic misconception and individual patient (n=1) “trials” in rare diseases such as Duchenne dystrophy. Neuromuscul Disord 2011; 21 (01) 13-15
39 Aartsma-Rus A, Balabanov P, Binetti L. , et al. Stakeholder collaboration for spinal muscular atrophy therapy development. Lancet Neurol 2017; 16 (04) 264
40 European Medicines Agency. SMA EMA meeting briefing document. Briefing Document to the Clinical Trial Readiness in Spinal Muscular Atrophy (SMA) SMA Europe, TREAT-NMD and European Medicines Agency meeting. 2017. Available at: http://www.treat-nmd.eu/downloads/file/meetings/2016/SMA_stakeholder_workshop_briefing_document_11.11.2016.pdf . Accessed June 28, 2017
41 European Medicines Agency. SMA EMA meeting videos. Spinal muscular atrophy workshop. 2017. Available at: http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/events/2016/07/event_detail_001310.jsp&mid=WC0b01ac058004d5c3 . Accessed June 28, 2016
42 Heslop E, Csimma C, Straub V. , et al; TACT. The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis 2015; 10: 49
43 Haas M, Vlcek V, Balabanov P. , et al. European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene. Neuromuscul Disord 2015; 25 (01) 5-13
44 Aartsma-Rus A. FDA approval of nusinersen for spinal muscular atrophy makes 2016 the year of splice modulating oligonucleotides. Nucleic Acid Ther 2017; 27 (02) 67-69
45 Julkowska D, Austin CP, Cutillo CM. , et al. The importance of international collaboration for rare diseases research-a European perspective. Gene Ther 2017;