Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
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 pop...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2017 |
| País: | España |
| Institución: | Instituto de Salud Carlos III (ISCIII) |
| Repositorio: | Repisalud |
| Idioma: | inglés |
| OAI Identifier: | oai:repisalud.isciii.es:20.500.12105/15573 |
| Acceso en línea: | http://hdl.handle.net/20.500.12105/15573 |
| Access Level: | acceso abierto |
| Palabra clave: | Adolescent Adrenal Cortex Hormones Adult Child Child, Preschool Cross-Sectional Studies Databases as Topic Humans Infant Infant, Newborn Male Muscular Dystrophy, Duchenne Treatment Outcome Young Adult |
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseKoeks, ZaïdaBladen, Catherine LSalgado, Davidvan Zwet, ErikPogoryelova, OksanaMcMacken, GraceMonges, SoledadFoncuberta, Maria EKekou, KyriakiKosma, KonstantinaDawkins, HughLamont, LeanneBellgard, Matthew IRoy, Anna JChamova, TeodoraGuergueltcheva, VelinaChan, SopheliaKorngut, LawrenceCampbell, CraigDai, YiWang, JenBarišić, NinaBrabec, PetrLähdetie, JaanaWalter, Maggie CSchreiber-Katz, OliviaKarcagi, VeronikaGarami, MartaHerczegfalvi, AgnesViswanathan, VenkatarmanBayat, FarhadBuccella, FilippoFerlini, AlessandraKimura, Envan den Bergen, Janneke CRodrigues, MiriamRoxburgh, RichardLusakowska, AnnaKostera-Pruszczyk, AnnaSantos, RosárioNeagu, ElenaArtemieva, SvetlanaRasic, Vedrana MilicVojinovic, DinaPosada De la Paz, ManuelBloetzer, ClemensKlein, AndreaDíaz-Manera, JordiGallardo, EduardKaraduman, A AyşeOznur, TuncaTopaloğlu, HalukEl Sherif, RashaStringer, AngelaShatillo, Andriy VMartin, Ann SPeay, Holly LKirschner, JanFlanigan, Kevin MStraub, VolkerBushby, KateBéroud, ChristopheVerschuuren, Jan JLochmüller, HannsAdolescentAdrenal Cortex HormonesAdultChildChild, PreschoolCross-Sectional StudiesDatabases as TopicHumansInfantInfant, NewbornMaleMuscular Dystrophy, DuchenneTreatment OutcomeYoung AdultBackground: 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.IOS PressUnión Europea. Comisión Europea. 6 Programa MarcoUnión Europea. Comisión Europea. 7 Programa MarcoMedical Research Council (Reino Unido)20232023-03-0620172017-01-0120172017-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/15573reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengEuropean Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305444European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305121EC FP6 20123307EC FP6 16104EC FP6 036825open accesshttp://purl.org/coar/access_right/c_abf2Attribution-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nd/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/155732026-06-12T12:43:37Z |
| dc.title.none.fl_str_mv |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| title |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| spellingShingle |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database Koeks, Zaïda Adolescent Adrenal Cortex Hormones Adult Child Child, Preschool Cross-Sectional Studies Databases as Topic Humans Infant Infant, Newborn Male Muscular Dystrophy, Duchenne Treatment Outcome Young Adult |
| title_short |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| title_full |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| title_fullStr |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| title_full_unstemmed |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| title_sort |
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database |
| dc.creator.none.fl_str_mv |
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 Wang, Jen Barišić, Nina Brabec, Petr Lähdetie, Jaana Walter, Maggie C Schreiber-Katz, Olivia Karcagi, Veronika Garami, Marta Herczegfalvi, Agnes Viswanathan, Venkatarman Bayat, Farhad Buccella, Filippo Ferlini, Alessandra Kimura, En van den Bergen, Janneke C Rodrigues, Miriam Roxburgh, Richard Lusakowska, Anna Kostera-Pruszczyk, Anna Santos, Rosário Neagu, Elena Artemieva, Svetlana Rasic, Vedrana Milic Vojinovic, Dina Posada De la Paz, Manuel Bloetzer, Clemens Klein, Andrea Díaz-Manera, Jordi Gallardo, Eduard Karaduman, A Ayşe Oznur, Tunca Topaloğlu, Haluk El Sherif, Rasha Stringer, Angela Shatillo, Andriy V Martin, Ann S Peay, Holly L Kirschner, Jan Flanigan, Kevin M Straub, Volker Bushby, Kate Béroud, Christophe Verschuuren, Jan J Lochmüller, Hanns |
| author |
Koeks, Zaïda |
| author_facet |
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 Wang, Jen Barišić, Nina Brabec, Petr Lähdetie, Jaana Walter, Maggie C Schreiber-Katz, Olivia Karcagi, Veronika Garami, Marta Herczegfalvi, Agnes Viswanathan, Venkatarman Bayat, Farhad Buccella, Filippo Ferlini, Alessandra Kimura, En van den Bergen, Janneke C Rodrigues, Miriam Roxburgh, Richard Lusakowska, Anna Kostera-Pruszczyk, Anna Santos, Rosário Neagu, Elena Artemieva, Svetlana Rasic, Vedrana Milic Vojinovic, Dina Posada De la Paz, Manuel Bloetzer, Clemens Klein, Andrea Díaz-Manera, Jordi Gallardo, Eduard Karaduman, A Ayşe Oznur, Tunca Topaloğlu, Haluk El Sherif, Rasha Stringer, Angela Shatillo, Andriy V Martin, Ann S Peay, Holly L Kirschner, Jan Flanigan, Kevin M Straub, Volker Bushby, Kate Béroud, Christophe Verschuuren, Jan J Lochmüller, Hanns |
| author_role |
author |
| author2 |
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 Wang, Jen Barišić, Nina Brabec, Petr Lähdetie, Jaana Walter, Maggie C Schreiber-Katz, Olivia Karcagi, Veronika Garami, Marta Herczegfalvi, Agnes Viswanathan, Venkatarman Bayat, Farhad Buccella, Filippo Ferlini, Alessandra Kimura, En van den Bergen, Janneke C Rodrigues, Miriam Roxburgh, Richard Lusakowska, Anna Kostera-Pruszczyk, Anna Santos, Rosário Neagu, Elena Artemieva, Svetlana Rasic, Vedrana Milic Vojinovic, Dina Posada De la Paz, Manuel Bloetzer, Clemens Klein, Andrea Díaz-Manera, Jordi Gallardo, Eduard Karaduman, A Ayşe Oznur, Tunca Topaloğlu, Haluk El Sherif, Rasha Stringer, Angela Shatillo, Andriy V Martin, Ann S Peay, Holly L Kirschner, Jan Flanigan, Kevin M Straub, Volker Bushby, Kate Béroud, Christophe Verschuuren, Jan J Lochmüller, Hanns |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Unión Europea. Comisión Europea. 6 Programa Marco Unión Europea. Comisión Europea. 7 Programa Marco Medical Research Council (Reino Unido) |
| dc.subject.none.fl_str_mv |
Adolescent Adrenal Cortex Hormones Adult Child Child, Preschool Cross-Sectional Studies Databases as Topic Humans Infant Infant, Newborn Male Muscular Dystrophy, Duchenne Treatment Outcome Young Adult |
| topic |
Adolescent Adrenal Cortex Hormones Adult Child Child, Preschool Cross-Sectional Studies Databases as Topic Humans Infant Infant, Newborn Male Muscular Dystrophy, Duchenne Treatment Outcome Young Adult |
| description |
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. |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2017 2017-01-01 2017 2017-01-01 2023 2023-03-06 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/20.500.12105/15573 |
| url |
http://hdl.handle.net/20.500.12105/15573 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305444 European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 305121 EC FP6 20123307 EC FP6 16104 EC FP6 036825 |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nd/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Attribution-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nd/4.0/ |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
IOS Press |
| publisher.none.fl_str_mv |
IOS Press |
| dc.source.none.fl_str_mv |
reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII) |
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Instituto de Salud Carlos III (ISCIII) |
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Repisalud |
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Repisalud |
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1869404912334405632 |
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15,812429 |