Koeks, ZaïdaZaïdaKoeksBladen, Catherine LCatherine LBladenSalgado, DavidDavidSalgadovan Zwet, ErikErikvan ZwetPogoryelova, OksanaOksanaPogoryelovaMcMacken, GraceGraceMcMackenMonges, SoledadSoledadMongesFoncuberta, Maria EMaria EFoncubertaKekou, KyriakiKyriakiKekouKosma, KonstantinaKonstantinaKosmaDawkins, HughHughDawkinsLamont, LeanneLeanneLamontBellgard, Matthew IMatthew IBellgardRoy, Anna JAnna JRoyChamova, TeodoraTeodoraChamovaGuergueltcheva, VelinaVelinaGuergueltchevaChan, SopheliaSopheliaChanKorngut, LawrenceLawrenceKorngutCampbell, CraigCraigCampbellDai, YiYiDaiWang, JenJenWangBarišić, NinaNinaBarišićBrabec, PetrPetrBrabecLähdetie, JaanaJaanaLähdetieWalter, Maggie CMaggie CWalterSchreiber-Katz, OliviaOliviaSchreiber-KatzKarcagi, VeronikaVeronikaKarcagiGarami, MartaMartaGaramiHerczegfalvi, AgnesAgnesHerczegfalviViswanathan, VenkatarmanVenkatarmanViswanathanBayat, FarhadFarhadBayatBuccella, FilippoFilippoBuccellaFerlini, AlessandraAlessandraFerliniKimura, EnEnKimuravan den Bergen, Janneke CJanneke Cvan den BergenRodrigues, MiriamMiriamRodriguesRoxburgh, RichardRichardRoxburghLusakowska, AnnaAnnaLusakowskaKostera-Pruszczyk, AnnaAnnaKostera-PruszczykSantos, RosárioRosárioSantosNeagu, ElenaElenaNeaguArtemieva, SvetlanaSvetlanaArtemievaRasic, Vedrana MilicVedrana MilicRasicVojinovic, DinaDinaVojinovicPosada, ManuelManuelPosadaBlötzer, Clemens FlorianClemens FlorianBlötzerKlein, AndreaAndreaKleinDíaz-Manera, JordiJordiDíaz-ManeraGallardo, EduardEduardGallardoKaraduman, A AyşeA AyşeKaradumanOznur, TuncaTuncaOznurTopaloğlu, HalukHalukTopaloğluEl Sherif, RashaRashaEl SherifStringer, AngelaAngelaStringerShatillo, Andriy VAndriy VShatilloMartin, Ann SAnn SMartinPeay, Holly LHolly LPeayKirschner, JanJanKirschnerFlanigan, Kevin MKevin MFlaniganStraub, VolkerVolkerStraubBushby, KateKateBushbyBéroud, ChristopheChristopheBéroudVerschuuren, Jan JJan JVerschuurenLochmüller, HannsHannsLochmüller2024-10-252024-10-252017https://boris-portal.unibe.ch/handle/20.500.12422/158498BACKGROUND 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.enDMD Duchenne muscular dystrophy Neuromuscular diseases TREAT-NMD600 - Technology::610 - Medicine & health300 - Social sciences, sociology & anthropology::360 - Social problems & social servicesarticle10.7892/boris.1114612912550410.3233/JND-170280