Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
| العنوان: | Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
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| المؤلفون: | Alessandra Ferlini, David Salgado, Velina Guergueltcheva, Olivia Schreiber-Katz, Zaïda Koeks, Grace McMacken, Hugh Dawkins, Jan Kirschner, Angela Stringer, Vedrana Milic Rasic, Teodora Chamova, Sophelia H. S. Chan, Hanns Lochmüller, Lawrence Korngut, Jan J.G.M. Verschuuren, Maggie C. Walter, Clemens Bloetzer, Jordi Díaz-Manera, Veronika Karcagi, Nina Barišić, Tunca Oznur, Andriy V. Shatillo, Ann Martin, Rasha El Sherif, Yi Dai, Kyriaki Kekou, Jaana Lahdetie, Andrea Klein, Rosário Santos, Holly L. Peay, Haluk Topaloglu, Elena Neagu, Maria E. Foncuberta, Richard Roxburgh, Kevin M. Flanigan, Miriam Rodrigues, Kate Bushby, Farhad Bayat, Petr Brabec, Christophe Béroud, Catherine L. Bladen, Jen Wang, Matthew I. Bellgard, Venkatarman Viswanathan, Svetlana Artemieva, Anna Lusakowska, Konstantina Kosma, Manuel Posada, Agnes Herczegfalvi, Soledad Monges, Anna Kostera-Pruszczyk, Dina Vojinovic, Volker Straub, Anna J. Roy, En Kimura, Janneke C. van den Bergen, Filippo Buccella, Leanne Lamont, Erik W. van Zwet, Craig Campbell, Oksana Pogoryelova, Eduard Gallardo, Marta Garami, Ayşe Karaduman |
| المساهمون: | Unión Europea. Comisión Europea. 6 Programa Marco, Unión Europea. Comisión Europea. 7 Programa Marco, Medical Research Council (Reino Unido), Department of Medical Statistics and Bioinformatics, Leiden University Medical Center (LUMC), Neuropaediatrics, Garrahan National Paediatric Hospital, Centre for Comparative Genomics, Murdoch University, Ctr Comparat Genom, Department of Neurology, Ludwig-Maximilians-Universität München (LMU)-Friedrich-Baur-Institute, Department of Reproduction and Growth, UOL of Medical Genetics (University Hospital St Anna, Ferrara), University of Ferrara at St. Anna Hospital, Medicina Pediátrica y del Desarrollo, Instituto de Investigación en Enfermedades Raras (IIER)-Instituto de Salud Carlos III [Madrid] (ISC), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universiteit Leiden-Universiteit Leiden, Department of Biological and Environmental Engineering, Cornell University [New York], Università degli Studi di Ferrara = University of Ferrara (UniFE), Department of Embryology [Warsaw], Institute of Zoology [Warsaw], Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW)-Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Investigación en Enfermedades Raras (IIER), Fizyoterapi ve Rehabilitasyon |
| المصدر: | Journal of Neuromuscular Diseases Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩ Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩ Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306 Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280 <http://dx.doi.org/10.3233/JND-170280Test> Paediatrics Publications |
| بيانات النشر: | IOS Press, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Research Report, Male, Neurology, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Cardiomyopathy, Disease, computer.software_genre, 0302 clinical medicine, Adrenal Cortex Hormones, Child, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Database, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Neuromuscular diseases, Treatment Outcome, Databases as Topic, Child, Preschool, Cohort, DMD, TREAT-NMD, Neurology (clinical), musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Socio-culturale, 610 Medicine & health, Adrenal Cortex Hormones/therapeutic use, Cross-Sectional Studies, Humans, Infant, Infant, Newborn, Muscular Dystrophy, Duchenne/epidemiology, Muscular Dystrophy, Duchenne/genetics, Muscular Dystrophy, Duchenne/therapy, Young Adult, 03 medical and health sciences, 360 Social problems & social services, medicine, education, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], business, computer, 030217 neurology & neurosurgery, Rare disease |
| الوصف: | Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. Objective: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. Methods: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. Results: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. Conclusions: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field. This work was supported by TREAT-NMD operating grants, FP6 LSHM-CT-2006-036825, 20123307 UNEW FY2013 and AFM 16104. Further support came from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444 (RD-Connect) and 305121 (Neuromics) and Medical Research Council UK (reference G1002274, grant ID 98482). Sí |
| وصف الملف: | application/pdf; text/plain |
| اللغة: | English |
| تدمد: | 2214-3599 2214-3602 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649eb05eacc507eb3dd6be6b40bd7e5bTest https://hdl.handle.net/20.500.12105/15573Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....649eb05eacc507eb3dd6be6b40bd7e5b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22143599 22143602 |
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