TREAT-NMD Publications

DMD Publications

SMA Publications

Publications about CMD, DM1, FSHD, LGMD, or multiple disease areas

CMD publications:

Consensus statement on standard of care for congenital muscular dystrophies
Wang CH, Bonnemann CG, Rutkowski A, et al. J Child Neurol. 2010;25(12):1559-1581. doi:10.1177/0883073810381924

DM1 publications:

Consensus-based care recommendations for adults with myotonic dystrophy type 1. 
Ashizawa T, Gagnon C, Groh WJ, et al. Neurol Clin Pract. 2018;8(6):507-520. doi:10.1212/CPJ.0000000000000531

FSHD publications:

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. 
Morís G, Wood L, Fernández-Torrón R, et al. Muscle Nerve. 2018;57(3):380-387. doi:10.1002/mus.25991

LGMD publications:

Global FKRP Registry: Observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al. Ann Clin Transl Neurol. 2020;7(5):757-766. doi:10.1002/acn3.51042

Limb-girdle muscular dystrophies — international collaborations for translational research
Thompson R, Straub V. Nat Rev Neurol. 2016;12(5):294-309. doi:10.1038/nrneurol.2016.35

Diagnosis and treatment in multiple disease areas:

“The impact of European Neuromuscular Centre (ENMC) workshops on the neuromuscular field; 25 years on …”
Breukel A, Willmann R, Padberg G, Sterrenburg E, Meijer I. Neuromuscul Disord. 2019;29(4):330-340. doi:10.1016/j.nmd.2019.01.008

European reference network for rare neuromuscular diseases: EURO-NMD. 
Evangelista T, Leary R, Hails M, Lochmüller H, Bushby K. Neuromuscular Disorders. 2017;27:S241. doi:10.1016/j.nmd.2017.06.524

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Lochmüller H, Le Cam Y, Jonker AH, et al. Eur J Hum Genet. 2017;25(2):162-165. doi:10.1038/ejhg.2016.137

Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD). 
Leary R, Oyewole A, Bushby K, Aartsma-Rus A. Neuropediatrics. 2017;48(04):211-220. doi:10.1055/s-0037-1604110

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. 
Mora M, Angelini C, Bignami F, et al. Eur J Hum Genet. 2015;23(9):1116-1123. doi:10.1038/ejhg.2014.272

Therapeutic misconception: hope, trust and misconception in paediatric research. 
Woods S, Hagger LE, McCormack P. Health Care Anal. 2014;22(1):3-21. doi:10.1007/s10728-012-0201-8

Gene-based therapies of neuromuscular disorders: an update and the pivotal role of patient organizations in their discovery and implementation
Braun S. J Gene Med. 2013;15(11-12):397-413. doi:10.1002/jgm.2747

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.
Rodger S, Lochmüller H, Tassoni A, et al. Orphanet J Rare Dis. 2013;8:171. Published 2013 Oct 23. doi:10.1186/1750-1172-8-171

Disputing the ethics of research: the challenge from bioethics and patient activism to the interpretation of the Declaration of Helsinki in clinical trials. 
Woods S, McCormack P. Bioethics. 2013;27(5):243-250. doi:10.1111/j.1467-8519.2011.01945.x

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: “translating” the translational.
McCormack P, Woods S, Aartsma-Rus A, et al. PLoS Curr. 2013;5:ecurrents.md.f90b49429fa814bd26c5b22b13d773ec. Published 2013 Jan 10. doi:10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec

Applications of MRI in muscle diseases. 
Carlier PG, Mercuri E, Straub V. Neuromuscul Disord. 2012;22 Suppl 2:S41. doi:10.1016/j.nmd.2012.08.001

4.61: The creation of a network after an international conference.
Godoy AJ. P4.61 Neuromuscular Disorders. 2011;21(9-10):722-723. doi:10.1016/j.nmd.2011.06.1026

Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally.
Bushby K. Orphanet J Rare Dis. 2010;5(Suppl 1):O13. Published 2010 Oct 19. doi:10.1186/1750-1172-5-S1-O13

[23] Standards of diagnosis and care for DMD and SMA
Sejersen T. Developmental Medicine & Child Neurology. 2009;51:1-12. doi:10.1111/j.1469-8749.2009.03328_1.x

TREAT-NMD Network. Collaborating to bring new therapies to the patient–the TREAT-NMD model.
Bushby K, Lynn S, Straub T. Acta Myol. 2009;28(1):12-15.

T.P.3.06 The TREAT NMD registry of outcome measures for neuromuscular disease – An introduction.
Auld JM, Seyedsadjadi R, Rose M. Neuromuscular Disorders. 2008;18(9-10):795. doi:10.1016/j.nmd.2008.06.245

Publications from the national registries

DMD registry publications

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium, Weiss RB. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Lochmüller et al. J Neuromuscul Dis. 2017;4(4):293-306. doi:10.3233/jnd-170280

Current status of dystrophinopathy national registry in Japan.
Kimura E, Mori-Yoshimura M, Mitsuhashi S, Takeuchi F, Nakamura H, Komaki H, Nishino I, Kawai M, Takeda S. Neuromuscular Disorders. 2016;26:S119. doi:10.1016/j.nmd.2016.06.123

Health related quality of life in European adults with DMD: Results from the Care-NMD-project. 
Steffensen B, Otto C, Werlauff U, Rahbek J, Hoejberg A, Kirschner J, Vry J, Gramsch K. Neuromuscular Disorders. 2015;25:S302. doi:10.1016/j.nmd.2015.06.412

A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 
Li X, Zhao L, Zhou S, et al. Orphanet J Rare Dis. 2015;10:5. Published 2015 Jan 23. doi:10.1186/s13023-014-0220-7

P159 – 2412: First drug registry in Duchenne muscular dystrophy (DMD) to assess Translarna use, safety, and effectiveness in routine clinical practice. 
Bushby K, Reha A, Northcutt VJ, Luo X, Ong T, Spiegel RJ. European Journal of Paediatric Neurology. 2015;19:S138. doi:10.1016/S1090-3798(15)30472-4

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
Lochmüller et al. Hum Mutat. 2015 Apr;36(4):395-402. doi:10.1002/humu.22758

Remudy
Kimura E, Nakamura H, Nishino I. Brain Nerve. 2014;66(11):1396-1402. doi:10.11477/mf.1416200045

The infrastructure for the clinical research of muscular dystrophies: Remudy and MDCTN. 
Kimura E, Nakamura H, Mitsuhashi S, Takeuchi F, Mori-Yoshimura M, Shimizu R, Komaki H, Hayashi YK, Nishino I, Kawai M, Takeda S. Rinsho Shinkeigaku. 2014;54(12):1069-1070. doi:10.5692/clinicalneurol.54.1069

G.P.258 National registry of Japanese dystrophinopathy patients: Remudy.
Takeuchi F, Nakamura H, Mitsuhashi S, Mori-Yoshimura M, Hayashi YK, Shimizu R, Komaki H, Nishino I, Kawai M, Takeda S, Kimura E. Neuromuscular Disorders. 2014;24(9-10):894. doi:10.1016/j.nmd.2014.06.334

Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?
Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, Griggs RC. Neurology. 2013;80(6):583-589. doi:10.1212/WNL.0b013e318282334e

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients
Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, Kimura E, Takeda S. J Neurol. 2013 Dec;260(12):3023-9. doi: 10.1007/s00415-013-7104-y. Epub 2013 Sep 22.

P.7.8 The national Dutch dystrophinopathy patient registry.
Bergen van den JC, Koeks Z, Straathof CSM, Ginjaar HB, Groot I, Kooi van der A, Fock A, Pangalila R, Tol van der M, Faber C, Wolf N, Coo I, Hendriksen J, Vroom E, Horemans A, Aastsma-Rus AM, Niks EH, Verschuuren JJG. Neuromuscular Disorders. 2013;23(9-10):775-776. doi:10.1016/j.nmd.2013.06.489

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda S, Kawai M. Orphanet J Rare Dis. 2013;8(1):60. doi:10.1186/1750-1172-8-60

Preliminary data of National Romanian Registry of DMD patients
Butoianu N, Sandu C, Iancu D, Neagu E, Iliescu C, Barca D, Burloiu C, Budisteanu M, Tarta-Arsene O, Minciu I, Motoescu C, Gherghiceanu R, Barbarii L, Craiu D. European Journal of Paediatric Neurology. 2013;17:S133-S134. doi:10.1016/S1090-3798(13)70470-7

DuchenneConnect Registry Report
Rangel V, Martin AS, Peay HL. PLoS Curr. 2012;4:RRN1309. doi:10.1371/currents.RRN1309

CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy. 
Rodger S, Antonova V, Brabec P et al. Neuromuscular Disorders. 2012;22(9-10):880. doi:10.1016/j.nmd.2012.06.255

Infrastructure for new drug development to treat muscular dystrophy: current status of patient registration (Remudy)
Nakamura H, Kimura E, Kawai M. Brain Nerve. 2011;63(11):1279-1284. doi:10.11477/mf.1416101063

Registry of muscular dystrophy (Remudy): Construction of the patient self-report registry and collaboration with overseas network
Nakamura H, Kawai M. Rinsho Shinkeigaku. 2011;51(11):901-902. doi:10.5692/clinicalneurol.51.901

P4.60 New horizons in the DuchenneConnect registry.
Peay HL, Rangel VM, Brown K, Martin AS, Furlong P. Neuromuscular Disorders. 2011;21(9-10):722. doi:10.1016/j.nmd.2011.06.1025

P1.4 Molecular profile of 307 Portuguese patients with dystrophinopathy, including 39 new variants.
dos Santos MR, Gonçalves AR, Vieira EM, Santos M, Fineza I, Moreno T, Vieira JP, Bronze-da-Rocha E.  Neuromuscular Disorders. 2011;21(9-10):642. doi:10.1016/j.nmd.2011.06.76

P4. 41 Remudy – DMD/BMD patient registry in Japan.
Nakamura H, Nishino I, Komaki H, Mori M, Ooya Y, Motoyoshi Y, Matsumura T, Takeda S, Kawai M. Neuromuscular Disorders. 2010;20(9-10):670-671. doi:10.1016/j.nmd.2010.07.237

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives
Pikó H, Vancsó V, Nagy B, Bán Z, Herczegfalvi Á, Karcagi V. Neuromuscular Disorders. 2009;19(2):108-112. doi:10.1016/j.nmd.2008.10.011

Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative approach
Brabec P, Vondráček P, Klimeš D, Baumeister S, Lochmüller H, Pavlík T, Gregor J. Neuromuscular Disorders. 2009;19(4):250-254. doi:10.1016/j.nmd.2009.01.005

SMA registry publications

P.93 Collaborative data collection by TREAT-NMD registries to support post-marketing surveillance in spinal muscular atrophy.
Bullivant J, Hodgkinson-Brechenmacher V, Rodrigues M, Straub V, Dawkins H, Campbell C, Goemans N. Neuromuscular Disorders. 2018;28:S57-S58. doi:10.1016/j.nmd.2018.06.121

P4.43 Spinal muscular atrophy national registry of Turkey.
Karaduman A, Yýlmaz O, Alemdaroglu I, Sönmez M, Topaloglu H. Neuromuscular Disorders. 2010;20(9-10):671. doi:10.1016/j.nmd.2010.07.239

CMT registry publications

Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. 
Burns J, Ouvrier RA, Nicholson GA, Ryan MM. Neuromuscul Disord. 2007;17(4):349-350. doi:10.1016/j.nmd.2006.11.007

DM1 registry publications

Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Hama M, Horie R, Kubota T, Matsumura T, Kimura E, Nakamura H, Takahashi MP, Takada H. Neuromuscular Disorders. 2021;472. doi.org/10.1016/j.jns.2021.117511.

A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1).
Horrigan J, Gomes TB, Snape M, et al. Pediatr Neurol. 2020;112:84-93. doi:10.1016/j.pediatrneurol.2020.08.001

A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project.
Jimenez-Moreno AC, Pinto CA, Levitan B, Whichello C, Dyer C, Van Overbeeke E, de Bekker-Grob E, Smith I, Huys I, Viberg Johansson J, Adcock K, Bullock K, Soekhai V, Yuan Z, Lochmuller H, de Wit A, Gorman GS. Wellcome Open Res. 2020;5:253. doi:10.12688/wellcomeopenres.16116.1

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, et al. J Neurol. 2020;267(11):3235-3242. doi:10.1007/s00415-020-09970-6

Activities of daily living in myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, et al. Acta Neurol Scand. 2020;141(5):380-387. doi:10.1111/ane.13215

Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey
Takahashi MP et al. Rinsho Shinkeigaku. 2020; Jan 18. doi: 10.5692/clinicalneurol.cn-001349.

Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey
Matsumura T et al. Rinsho Shinkeigaku. 2020; Jan 18. doi: 10.5692/clinicalneurol.cn-001347

The UK Myotonic Dystrophy Patient Registry: A Key Tool in the Facilitation of Clinical Research.
Porter B, Cammish P, Turner C, Heslop E, Marini-Bettolo C. In: 12th UK Neuromuscular Translational Research Conference. 2019, Newcastle.

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.
Best AF, Hilbert JE, Wood L, et al. Eur J Neurol. 2019;26(1):58-65. doi:10.1111/ene.13763

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Cumming SA, Jimenez-Moreno C, Okkersen K, et al. [Published correction appears in Neurology. 2020 Mar 10;94(10):459]. Neurology. 2019;93(10):e995-e1009. doi:10.1212/WNL.0000000000008056

Analysis of the functional capacity outcome measures for myotonic dystrophy.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, et al. Ann Clin Transl Neurol. 2019;6(8):1487-1497. doi:10.1002/acn3.50845

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1.
Flower M, Lomeikaite V, Ciosi M, et al. Brain. 2019;142(7):1876-1886. doi:10.1093/brain/awz115

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy.
Jimenez-Moreno AC, Charman SJ, Nikolenko N, et al. Disabil Rehabil. 2019;41(24):2972-2978. doi:10.1080/09638288.2018.1482376

Disease burden of myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, et al. J Neurol. 2019;266(4):998-1006. doi:10.1007/s00415-019-09228-w

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.
Higgs C, Hilbert JE, Wood L, et al. Front Neurol. 2019;10:1071. Published 2019 Oct 11. doi:10.3389/fneur.2019.01071

The UK Myotonic Dystrophy Patient Registry: a key tool in the facilitation of clinical research. 
Cammish P, Wood L, Lochmuller H, Gorman G. Neuromuscular Disorders. 2018;28:S17-S18. doi:10.1016/S0960-8966(18)30341-9

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.
Okkersen K, Jimenez-Moreno C, Wenninger S, et al. Lancet Neurol. 2018;17(8):671-680. doi:10.1016/S1474-4422(18)30203-5

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.
Jiménez-Moreno AC, Raaphorst J, Babačić H, et al. Neuromuscul Disord. 2018;28(3):229-235. doi:10.1016/j.nmd.2017.12.010

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease [published correction appears in Orphanet J Rare Dis. 2019 Aug 15;14(1):199].
Wood L, Bassez G, Bleyenheuft C, et al. Orphanet J Rare Dis. 2018;13(1):155. Published 2018 Sep 5. doi:10.1186/s13023-018-0889-0

Benign and malignant tumors in the UK myotonic dystrophy patient registry.
Alsaggaf R, Wang Y, Marini-Bettolo C, et al. Muscle Nerve. 2018;57(2):316-320. doi:10.1002/mus.25736

The myotonic dystrophy registry of Japan: Current status and analysis for clinical research.
Takahashi M, Matsumura T, Takada H, Kuru S, Kimura E. Journal of the Neurological Sciences. 2017;381:1078. doi:10.1016/j.jns.2017.08.3042

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
Wood L, Cordts I, Atalaia A, et al. J Neurol. 2017;264(5):979-988. doi:10.1007/s00415-017-8483-2

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).
DiPaolo G, Jimenez-Moreno C, Nikolenko N, et al. J Neurol. 2017;264(4):701-708. doi:10.1007/s00415-017-8399-x

Illuminating Loss: a study of the Capacity for Artistic Practice to Shape Research and Care in the Field of Inherited Genetic Illness.
Donachie J (2016). Doctoral thesis, Northumbria University.

FSHD registry publications

Upper limb rehabilitation in facioscapulohumeral dystrophy (FSHD): a patients perspective.
Kulshrestha R, Emery N, Faux-Nightingale A, Willis T, Philp F. medRxiv; 2020. doi:10.1101/2020.05.11.20097022

Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C. Neuromuscular Disorders. 2020;30(4):315-328. doi:10.1016/j.nmd.2020.03.001

The UK FSHD Patient Registry: A Key Tool in the Facilitation of Clinical Research
Porter B, Cammish P, Orrell R, Heslop E, Marini-Bettolo C. In: 12^th UK Neuromuscular Translational Research Conference. 2019, Newcastle.

Phenotype may predict the clinical course of facioscapulohumeral muscular dystrophy.
Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Muscle Nerve. 2019;59(6):711-713. doi:10.1002/mus.26474

Quality of life in patients with facioscapulohumeral dystrophy type 1.
Moris G, Wood L, Gonzalez J, Fernandez-Torron R, Lochmüller H, Evangelista T. Neuromuscular Disorders. 2017;27:S202. doi:10.1016/j.nmd.2017.06.391

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
Evangelista T, Wood L, Fernandez-Torron R, et al. J Neurol. 2016;263(7):1401-1408. doi:10.1007/s00415-016-8132-1

Pain and quality of life in the UK FSHD patient registry. 
Evangelista T, Wood L, Pohlschmidt M, Longman C, Roberts M, Hilton-Jones D, Lunt P, Wills T, Orrell R, Norwood F, Williams M, Smith D, Hudson J, Lochmüller H. Neuromuscular Disorders. 2015;25:S214. doi:10.1016/j.nmd.2015.06.108

UK facioscapulohumeral muscular dystrophy (FSHD) patient registry.
Wood L, Evangelista T, Norwood F, Orrell R, Pohlschmidt M, Busby M, Graham A, Hilton-Jones D, Longman C, Lunt P, Roberts M, Watt S, Watt S, Willis T, Lochmüller H. Orphanet J Rare Dis. 2014;9(Suppl 1):P6. doi:10.1186/1750-1172-9-S1-P6

Multiple disease areas

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.
Ambrosini A, Calabrese D, Avato FM, Catania F, Cavaletti G, Pera MC, Toscano A, Vita G, Monaco L, Pareyson D. Orphanet J Rare Dis. 2018;13(1):176. doi:10.1186/s13023-018-0918-z

Audit of the TREAT-NMD global DMD and SMA registries: new insights into data collection methods. 
Leary R, Oyewole A, Goemans N, Dawkins H, Campbell C. Neuromuscular Disorders. 2017;27:S127-S128. doi:10.1016/j.nmd.2017.06.131

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients. 
Rodrigues MJ, O’Grady GL, Hammond-Tooke G, et al. J Neuromuscul Dis. 2017;4(3):183-188. doi:10.3233/JND-170240

Current status of national neuromuscular patient registries in Japan: Remudy. 
Kimura E, Mori-Yoshimura M, Takahashi P M, Ishiyama A, Nakamura H, Wu S, Komaki H, Matsumura T, Aoki M, Nishino I, Takeda S. Journal of the Neurological Sciences. 2017;381:473. doi:10.1016/j.jns.2017.08.3542

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. 
Thompson R, Robertson A, Lochmüller H. Adv Exp Med Biol. 2017;1031:97-124. doi:10.1007/978-3-319-67144-4_5

The New Zealand neuromuscular disease registry: rate of diagnoses confirmed by molecular testing. 
Rodrigues M, Kidd A, Love DR, Roxburgh R. Journal of Clinical Neuroscience. 2015;22(2):434-436. doi:10.1016/j.jocn.2014.06.096

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. 
Rodger S, Lochmüller H, Tassoni A, et al. Orphanet J Rare Dis. 2013;8:171. Published 2013 Oct 23. doi:10.1186/1750-1172-8-171

P97 New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom. 
Rafferty K, Bowler M, Pohlschmidt M, Rogers M, Turner C, Lochmüller H. Neuromuscular Disorders. 2012;22:S34. doi:10.1016/S0960-8966(12)70105-0

S.P.33 Australasian neuromuscular disease registry. 
Hammond EL, Youngs L, Bellgard M, Dawkins H. Neuromuscular Disorders. 2012;22(9-10):881. doi:10.1016/j.nmd.2012.06.258

The New Zealand neuromuscular disease registry. 
Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R. Journal of Clinical Neuroscience. 2012;19(12):1749-1750. doi:10.1016/j.jocn.2012.04.008

A Modular Approach to Disease Registry Design: Successful Adoption of an Internet-based Rare Disease Registry
Bellgard MI, Macgregor A, Janon F, Harvey A, O’Leary P, Hunter A, Dawkins H. Hum Mutat. 2012;33(10):E2356-E2366. doi:10.1002/humu.22154

[16] The TREAT-NMD patient registries for spinal muscular atrophy and Duchenne muscular dystrophy.
Lochmüller H. Developmental Medicine & Child Neurology. 2009;51:1-12. doi:10.1111/j.1469-8749.2009.03328_1.x

P. 3. 08 The TREAT-NMD Clinical Trials Coordination Centre (CTCC). 
Stanescu A, Kirschner J, Marx C, Pohl A, Tassoni A, Geismann S, Maier-Lenz H, Korinthenberg R. T. Neuromuscular Disorders. 2008;18(9-10):796. doi:10.1016/j.nmd.2008.06.247

TACT Publications

A decade of optimizing drug development for rare neuromuscular disorders through TACT. 
Wagner KR, De Luca A, Caizergues D, et al. Nat Rev Drug Discov. 2020;19(1):1-2. doi:10.1038/d41573-019-00199-1

Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT). 
Willmann R, Lee J, Turner C, et al. Dis Model Mech. 2020;13(2):dmm042903. Published 2020 Feb 7. doi:10.1242/dmm.042903

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Heslop E, Csimma C, Straub V, et al. Orphanet J Rare Dis. 2015;10:49. Published 2015 Apr 23. doi:10.1186/s13023-015-0258-1

Workshop/Meeting Reports

Update on Standard Operating Procedures in Preclinical Research for DMD and SMA: Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands. 
van Putten M, Aartsma-Rus A, Grounds MD, et al. J Neuromuscul Dis. 2018;5(1):29-34. doi:10.3233/JND-170288

Meeting report of the “Regulatory Exchange Matters” session at the 5th International TREAT-NMD Conference: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular disorders: Freiburg, Germany, 27-29 November 2017.
Aartsma-Rus A, Mercuri E, Vroom E, Balabanov P. Neuromuscul Disord. 2018;28(7):619-623. doi:10.1016/j.nmd.2018.04.009

225th ENMC international workshop: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.
Mul K, Kinoshita J, Dawkins H, van Engelen B, Tupler R; FSHD Consortium. Neuromuscul Disord. 2017;27(8):782-790. doi:10.1016/j.nmd.2017.04.004

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA.
Hoffman EP; Workshop Participants; TREAT-NMD Alliance. Neuromuscul Disord. 2017;27(7):693-701. doi:10.1016/j.nmd.2017.02.013

218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016.
Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group. Neuromuscul Disord. 2017;27(6):596-605. doi:10.1016/j.nmd.2017.02.014

TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. 
Straub V, Carlier PG, Mercuri E. Neuromuscul Disord. 2012;22 Suppl 2:S42-S53. doi:10.1016/j.nmd.2012.08.002

International workshop on assessment of upper limb function in Duchenne Muscular Dystrophy: Rome, 15-16 February 2012.
Mercuri E, McDonald C, Mayhew A, et al. Neuromuscul Disord. 2012;22(11):1025-1028. doi:10.1016/j.nmd.2012.06.006

Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France.
Hollingsworth KG, de Sousa PL, Straub V, Carlier PG. Neuromuscul Disord. 2012;22 Suppl 2:S54-S67. doi:10.1016/j.nmd.2012.06.005

Developing standard procedures for pre-clinical efficacy studies in mouse models of spinal muscular atrophy: report of the expert workshop “Pre-clinical testing for SMA”, Zürich, March 29-30th 2010. 
Willmann R, Dubach J, Chen K; TREAT-NMD Neuromuscular Network. Neuromuscul Disord. 2011;21(1):74-77. doi:10.1016/j.nmd.2010.09.014

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. 
Muntoni F; Meeting Steering Committee and TREAT-NMD Network. Neuromuscul Disord. 2010;20(5):355-362. doi:10.1016/j.nmd.2010.03.005

Developing standard procedures for murine and canine efficacy studies of DMD therapeutics: report of two expert workshops on “Pre-clinical testing for Duchenne dystrophy”: Washington DC, October 27th-28th 2007 and Zürich, June 30th-July 1st 2008.
Nagaraju K, Willmann R; TREAT-NMD Network and the Wellstone Muscular Dystrophy Cooperative Research Network. Neuromuscul Disord. 2009;19(7):502-506. doi:10.1016/j.nmd.2009.05.003

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigiold International Workshop Report
Thompson R, Schoser B, Monckton DG, Blonsky K, Lochmüller H. Neuromuscular Disorders. 2009;19(12):860-866. doi:10.1016/j.nmd.2009.08.009

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
Tawil R, van der Maarel S, Padberg GW, van Engelen BGM. Neuromuscular Disorders. 2010;20(7):471-475. doi:10.1016/j.nmd.2010.04.007

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops
Mercuri E, Mayhew A, Muntoni F, et al. Neuromuscul Disord. 2008;18(11):894-903. doi:10.1016/j.nmd.2008.07.003

149th ENMC International Workshop and 1st TREAT-NMD Workshop on: “Planning phase I/II clinical trials using systemically delivered antisense oligonucleotides in Duchenne muscular dystrophy”
Muntoni F, Bushby KD, van Ommen G. Neuromuscul Disord. 2008;18(3):268-275. doi:10.1016/j.nmd.2007.11.010