The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1449-1457

  Bladen, Catherine L ^a   Rafferty, Karen ^a   Straub, Volker ^a   Monges, Soledad ^b   Moresco, Angélica ^b   Dawkins, Hugh ^c   Roy, Anna ^d   Chamova, Teodora ^e   Guergueltcheva, Velina ^e   Korngut, Lawrence ^f   Campbell, Craig ^g   Dai, Yi ^h   Barišić, Nina ⁱ   Kos, Tea ⁱ   Brabec, Petr ^j   Rahbek, Jes ^k   Lahdetie, Jaana ^l   Tuffery Giraud, Sylvie ^m   Claustres, Mireille ^m   Leturcq, France ⁿ   Ben Yaou, Rabah ⁿ   Walter, Maggie C ^o   Schreiber, Olivia ^o   Karcagi, Veronika ^p   Herczegfalvi, Agnes ^p   Viswanathan, Venkatarman ^q   Bayat, Farhad ^r   de la caridad Guerrero Sarmiento, Isis ^r   Ambrosini, Anna ^s   Ceradini, Francesca ^t   Kimura, En ^u   van den Bergen, Janneke C ^v   Rodrigues, Miriam ^w   Roxburgh, Richard ^w   Lusakowska, Anna ^x   Oliveira, Jorge ^y   Santos, Rosário ^y   Neagu, Elena ^z   Butoianu, Niculina ^z   Artemieva, Svetlana ^aa   Rasic, Vedrana Milic ^ab   Posada, Manuel ^ac   Palau, Francesc ^ad   Lindvall, Björn ^ae   Bloetzer, Clemens ^af   Karaduman, Ayşe ^ag   Topaloǧlu, Haluk ^ag   Inal, Serap ^ah   Oflazer, Piraye ^ah   Stringer, Angela ^ai   Shatillo, Andriy V ^aj   Martin, Ann S ^ak   Peay, Holly ^ak   Flanigan, Kevin M ^al   Salgado, David ^ao,ap   von Rekowski, Brigitta ^a   Lynn, Stephen ^a   Heslop, Emma ^a   Gainotti, Sabina ^am   Taruscio, Domenica ^am   Kirschner, Jan ^an   Verschuuren, Jan ^v   Bushby, Kate ^a   Béroud, Christophe ^ao   Lochmüller, Hanns ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Hospital Pediatría J P Garrahan   (Argentina)

^c Office of Population Health Genomics   (Australia)

^d SCIENTIFIC INSTITUTE OF PUBLIC HEALTH   (Belgium)

^e MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^f UNIVERSITY OF CALGARY   (Canada)

^g UNIVERSITY OF WESTERN ONTARIO   (Canada)

^h PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

ⁱ KBC Zagreb   (Croatia)

^j MASARYK UNIVERSITY   (Czech Republic)

^k The Danish National Rehabilitation Center for Neuromuscular Diseases   (Denmark)

^l TURKU UNIVERSITY HOSPITAL   (Finland)

^m UNIVERSITÉ DE MONTPELLIER   (France)

ⁿ Laboratoire de Biochimie et Génétique Moléculaire Hôpital Cochin ^*  (France)

^o LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^p NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^q KANCHI KAMAKOTI CHILDS TRUST HOSPITAL   (India)

^r PASTEUR INSTITUTE OF IRAN   (Iran)

^s Fondazione Telethon Piazza Cavour 1   (Italy)

^t Parent Project Onlus   (Italy)

^u NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^v LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^w AUCKLAND CITY HOSPITAL   (New Zealand)

^x Warszawa Banacha 1a ^*  (Poland)

^y Centro de Genética Médica Jacinto Magalhães ^*  (Portugal)

^z Al Obregia Clinical Hospital   (Romania)

^aa Rublevskoe shosse   (Russian Federation)

^ab Clinic of Neurology and Psychiatry for Children and Youth   (Serbia)

^ac Instituto de Salud Carlos III   (Spain)

^ad HOSPITAL UNIVERSITARIO LA FE   (Spain)

^ae Muskelcentrum   (Sweden)

^af LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^ag HACETTEPE UNIVERSITY   (Turkey)

^ah ISTANBUL UNIVERSITY   (Turkey)

^ai Action Duchenne   (United Kingdom)

^aj Inst Neurol Psychiat Narcology   (Ukraine)

^ak Duchenne Connect   (United States)

^al OHIO STATE UNIVERSITY   (United States)

^am ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^an UNIVERSITY OF FREIBURG   (Germany)

^ao TIMONE HOSPITAL   (France)

^ap MONASH UNIVERSITY   (Australia)

more..

Author keywords

Disease registries; DMD; Duchenne muscular dystrophy; Rare disease; TREAT NMD

Indexed keywords

ARTICLE; DATA BASE; DEMOGRAPHY; DISEASE REGISTRY; DUCHENNE MUSCULAR DYSTROPHY; FUNDING; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE SYSTEM; HEALTH SERVICE; HUMAN; MAJOR CLINICAL STUDY; OUTCOME ASSESSMENT; PATIENT INFORMATION; PRIORITY JOURNAL; TREATMENT OUTCOME;

DISEASE REGISTRIES; DMD; DUCHENNE MUSCULAR DYSTROPHY; RARE DISEASE; TREAT-NMD;

DATABASES, FACTUAL; GEOGRAPHY, MEDICAL; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; REGISTRIES; WORLD HEALTH;

EID: 84885419981     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22390     Document Type: Article

References (30)

1. Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT. 2009. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 30(3):293-299.
2. Ahn AH, Kunkel LM. 1993. The structural and functional diversity of dystrophin. Nat Genet 3(4):283-291.
3. Baxter P. 2006. Treatment of the heart in Duchenne muscular dystrophy. Dev Med Child Neurol 48(3):163.
4. Beroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, et al. 2007. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat 28(2):196-202.
5. Brabec P, Vondracek P, Klimes D, Baumeister S, Lochmuller H, Pavlik T, Gregor J. 2009. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscul Disord 19(4):250-254.
6. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C. 2010. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 9(1):77-93.
7. Bushby K, Lynn S, Straub T, Network T-N. 2009. Collaborating to bring new therapies to the patient-the TREAT-NMD model. Acta Myol 28(1):12-15.
8. Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, et al. 2009. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol 24(4):425-430.
9. Dooley J, Gordon KE, Dodds L, MacSween J. 2010. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila) 49(2):177-179.
10. Emery AE. 1993. Duchenne muscular dystrophy-Meryon's disease. Neuromuscul Disord 3(4):263-266.
11. Emery AE. 2002. The muscular dystrophies. Lancet 359(9307):687-695.
12. Gowers W. 1892. A manual of diseases of the nervous system. London: J & A Churchill.
13. Griggs RC, Herr BE, Reha A, Elfring G, Atkinson L, Cwik V, McColl E, Tawil R, Pandya S, McDermott MP, Bushby K. 2013. Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve 48(1):27-31.
14. Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda S, Kawai M. 2013. Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet J Rare Dis 8(60).
15. Hoffman EP, Reeves E, Damsker J, Nagaraju K, McCall JM, Connor EM, Bushby K. 2012. Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am 23(4):821-828.
16. Hollingsworth KG, de Sousa PL, Straub V, Carlier PG. 2012. Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops: May 2, 2010, Stockholm, Sweden; October 1-2, 2009, Paris, France. Neuromuscul Disord 22 Suppl 2:S54-S67.
17. Humbertclaude V, Hamroun D, Bezzou K, Berard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, et al. 2012. Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol 16(2):149-160.
18. Kaye E. 2010. Case study on use of registries in long-term surveillance. NIH/FDA Conference on Antisense Oligonucleotide Therapies in Neuromuscular Disease (Washington DC).
19. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50(3):509-517.
20. Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K, Network T-NN. 2008. Toward harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, May 12-13, 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, June 30-July 1, 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, July 11, 2007, Paris, France. Neuromuscul Disord 18(11):894-903.
21. Nakamura H, Kimura E, Kawai M. 2011. Infrastructure for new drug development to treat muscular dystrophy: current status of patient registration (Remudy). Brain Nerve 63(11):1279-1284.
22. Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda SI, Kawai M. 2013. Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet J Rare Dis 8(1):60.
23. Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R. 2012. The New Zealand neuromuscular disease registry. J Clin Neurosci 19(12):1749-1750.
24. Sarkozy A, Bushby K, Beroud C, Lochmuller H. 2008. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders; January 25-27, 2008, Naarden, The Netherlands. Neuromuscul Disord 18(12):997-1001.
25. Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, Griggs RC. 2013. Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology 80(6):583-589.
26. Sejerson T, Bushby K, Excellence T-NENo. 2009. Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations. Adv Exp Med Biol 652:13-21.
27. Straub V, Carlier PG, Mercuri E. 2012. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI; February 25-26, 2011, Rome, Italy. Neuromuscul Disord 22 Suppl 2:S42-S53.
28. Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P, et al. 2009. Genotype-phenotype analysis in 2, 405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30(6):934-945.
29. van Ommen GJ, Aartsma-Rus A. 2013. Advances in therapeutic RNA-targeting. N Biotechnol 30(3):299-301.
30. White SJ, den Dunnen JT. 2006. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115(3-4):240-246.