Results 11 to 20 of about 75,574 (228)

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
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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

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
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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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Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Progressive muscular dystrophy (Duchenne type) (case report).

Paediatrica Indonesiana, 2019
Clinical findings of two brothers suffering from progressive muscular dystrophy pseudohypertrophic type according to Duchenne are reported. Literatures dealing with its clinical classification, biochemical disturbances, hypotheses of the pathogenesis ...
S. Winarno, Indrawarman, S. Waloejo, L. Kristanti   +3 more
semanticscholar   +1 more source

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis

Journal of Orthopaedic Surgery and Research, 2022
Background A variety of mutations in the largest human gene, dystrophin, cause a spectrum from mild to severe dystrophin-associated muscular dystrophies.
N. Salari, Behnaz Fatahi, E. Valipour, Mohsen Kazeminia, Reza Fatahian, Ali Akbar Kiaei, S. Shohaimi, M. Mohammadi   +7 more
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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

JAMA Network Open, 2022
This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment.
J. Mah, P. Clemens, M. Guglieri, E. Smith, R. Finkel, M. Tulinius, Y. Nevo, M. Ryan, R. Webster, D. Castro, N. Kuntz, C. McDonald, J. Damsker, Benjamin D. Schwartz, L. Mengle-Gaw, S. Jackowski, Georgia Stimpson, D. Ridout, V. Ayyar-Gupta, G. Baranello, A. Manzur, F. Muntoni, H. Gordish-Dressman, M. Leinonen, L. Ward, E. Hoffman, Utkarsh J. Dang   +26 more
semanticscholar   +1 more source