Results 11 to 20 of about 71,442 (257)

Duchenne muscular dystrophy: disease mechanism and therapeutic strategies

Frontiers in Physiology, 2023
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy.
Addeli Bez Batti Angulski, Nora Hosny, Houda Cohen, Ashley A. Martin, Dongwoo Hahn, Jack Bauer, J. Metzger   +6 more
semanticscholar   +1 more source

Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1‐Year Interim Results from Study SRP‐9001‐103 (ENDEAVOR)

Annals of Neurology, 2023
Delandistrogene moxeparvovec is approved in the USA for the treatment of ambulatory patients (4–5 years) with Duchenne muscular dystrophy. ENDEAVOR (SRP‐9001‐103; NCT04626674) is a single‐arm, open‐label study to evaluate delandistrogene moxeparvovec ...
C. Zaidman, C. Proud, C. McDonald, K. Lehman, N. Goedeker, Stefanie Mason, Alexander P. Murphy, M. Guridi, Shufang Wang, Carol Reid, E. Darton, C. Wandel, S. Lewis, Jyoti Malhotra, D. Griffin, R. Potter, L. Rodino-Klapac, J. Mendell   +17 more
semanticscholar   +1 more source

Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing

Science Advances, 2021
Base and prime genome editing correct Duchenne muscular dystrophy mutations to restore dystrophin in mice and human cells. Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by the lack of dystrophin, which maintains muscle membrane ...
F. Chemello, A. C. Chai, H. Li, C. Rodriguez-Caycedo, E. Sánchez-Ortiz, A. Atmanli, A. Mireault, N. Liu, R. Bassel-Duby, E. Olson   +9 more
semanticscholar   +1 more source

Recent Trends in Antisense Therapies for Duchenne Muscular Dystrophy

Pharmaceutics, 2023
Duchenne muscular dystrophy (DMD) is a debilitating and fatal genetic disease affecting 1/5000 boys globally, characterized by progressive muscle breakdown and eventual death, with an average lifespan in the mid–late twenties.
H. Wilton-Clark, T. Yokota
semanticscholar   +1 more source

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Journal of the American Medical Association (JAMA), 2022
Importance Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen and dosage.
M. Guglieri, K. Bushby, M. Mcdermott, K. Hart, R. Tawil, W. Martens, B. Herr, E. McColl, C. Speed, J. Wilkinson, J. Kirschner, W. King, M. Eagle, Mary W. Brown, T. Willis, R. Griggs, V. Straub, H. van Ruiten, A. Childs, E. Ciafaloni, P. Shieh, S. Spinty, L. Maggi, G. Baranello, R. Butterfield, I. Horrocks, H. Roper, Z. Alhaswani, K. Flanigan, N. Kuntz, A. Manzur, B. Darras, P. Kang, L. Morrison, Monika Krzesniak‐Swinarska, J. Mah, T. Mongini, F. Ricci, M. von der Hagen, R. Finkel, K. O’Reardon, M. Wicklund, Ashutosh Kumar, C. McDonald, Jay J. Han, N. Joyce, E. Henricson, U. Schara-Schmidt, A. Gangfuss, E. Wilichowski, R. Barohn, J. Statland, C. Campbell, G. Vita, G. Vita, J. Howard, I. Hughes, H. McMillan, E. Pegoraro, L. Bello, W. Burnette, M. Thangarajh, Taeun Chang   +62 more
semanticscholar   +1 more source

Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2020
Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli, J. Sultana, A. Fontana, F. Salvo, S. Messina, G. Trifirò   +5 more
semanticscholar   +1 more source

Life Expectancy in Duchenne Muscular Dystrophy

Neurology, 2021
Background and Objectives Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of its rarity, research literature and patient numbers are ...
J. Broomfield, M. Hill, M. Guglieri, M. Crowther, K. Abrams   +4 more
semanticscholar   +1 more source

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

JAMA Neurology, 2022
This randomized clinical trial investigates the efficacy and safety of partial receptor agonist vamorolone compared with placebo and prednisone in boys with Duchenne muscular dystrophy.
M. Guglieri, P. Clemens, Seth Perlman, E. Smith, I. Horrocks, R. Finkel, J. Mah, N. Deconinck, N. Goemans, J. Haberlova, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, A. Harper, P. Shieh, L. De Waele, D. Castro, Michelle L. Yang, M. Ryan, C. McDonald, M. Tulinius, R. Webster, H. McMillan, N. Kuntz, Vashmi K Rao, G. Baranello, S. Spinty, A. Childs, A. Sbrocchi, K. Selby, M. Monduy, Y. Nevo, J. Vilchez-Padilla, Andrés Nascimento-Osorio, E. Niks, Imelda J. M. de Groot, M. Katsalouli, M. James, J. N. van den Anker, J. Damsker, A. Ahmet, L. Ward, M. Jaros, Phil Shale, Utkarsh J. Dang, E. Hoffman   +45 more
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Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled, dose‐titration trial

Muscle and Nerve, 2021
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a phosphorodiamidate morpholino oligomer designed to bypass frameshift DMD mutations and produce internally truncated, yet ...
K. Wagner, N. Kuntz, E. Koenig, L. East, S. Upadhyay, B. Han, P. Shieh   +6 more
semanticscholar   +1 more source

Septic shock secondary to an acute necrotizing community-acquired pneumonia with bacteremia due to Pseudomonas aeruginosa

IDCases, 2019
Pseudomonas aeruginosa is an uncommon cause of necrotizing acute community-acquired pneumonia (CAP). Only thirteen cases have been previously reported in the literature.
P. Riviere, D. Patin, E. Delaporte, H. Mahfoudi, S. Lecailtel, F. Poher, P. Villette, J. Duclaux, P. Jouault, G. Brunin   +9 more
doaj   +1 more source