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Emerging therapies for Duchenne muscular dystrophy.
Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L. Markati T, et al. Lancet Neurol. 2022 Sep;21(9):814-829. doi: 10.1016/S1474-4422(22)00125-9. Epub 2022 Jul 15. Lancet Neurol. 2022. PMID: 35850122 Review.
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. ...The difficulties of clinical development that arise from both the rarity and variability of Duchenne muscular dystrophy might be overcome in the …
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. ...The difficu …
Newborn screening of neuromuscular diseases.
Dangouloff T, Boemer F, Servais L. Dangouloff T, et al. Neuromuscul Disord. 2021 Oct;31(10):1070-1080. doi: 10.1016/j.nmd.2021.07.008. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34620514 Free article. Review.
We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), Pompe disease (8), X-linked adrenoleukodystrophy (5), Krabbe disease (4), myotonic dystrophy type 1 (1), metachromatic leukodystrophy (1). …
We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), …
Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation.
Osseni A, Ravel-Chapuis A, Belotti E, Scionti I, Gangloff YG, Moncollin V, Mazelin L, Mounier R, Leblanc P, Jasmin BJ, Schaeffer L. Osseni A, et al. Nat Commun. 2022 Nov 19;13(1):7108. doi: 10.1038/s41467-022-34831-3. Nat Commun. 2022. PMID: 36402791 Free PMC article.
The absence of dystrophin in Duchenne muscular dystrophy disrupts the dystrophin-associated glycoprotein complex resulting in skeletal muscle fiber fragility and atrophy, associated with fibrosis as well as microtubule and neuromuscular junction disorganization. ...These f …
The absence of dystrophin in Duchenne muscular dystrophy disrupts the dystrophin-associated glycoprotein complex resulting in skeleta …
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls.
Muntoni F, Signorovitch J, Sajeev G, Goemans N, Wong B, Tian C, Mercuri E, Done N, Wong H, Moss J, Yao Z, Ward SJ, Manzur A, Servais L, Niks EH, Straub V, de Groot IJ, McDonald C; North Star Clinical Network, PRO-DMD-01 Study, The Association Française contre les Myopathies (AFM), The DMD Italian Group, and The Collaborative Trajectory Analysis Project (cTAP). Muntoni F, et al. Neuromuscul Disord. 2022 Apr;32(4):271-283. doi: 10.1016/j.nmd.2022.02.009. Epub 2022 Feb 25. Neuromuscul Disord. 2022. PMID: 35396092 Free article.
Using external controls based on real-world or natural history data (RWD/NHD) for drug evaluations in Duchenne muscular dystrophy (DMD) is appealing given the challenges of enrolling placebo-controlled trials, especially for multi-year trials. ...
Using external controls based on real-world or natural history data (RWD/NHD) for drug evaluations in Duchenne muscular dystrophy (DM …
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.
Servais L, Horton R, Saade D, Bonnemann C, Muntoni F; 261st ENMC workshop study group. Servais L, et al. Neuromuscul Disord. 2023 Nov;33(11):884-896. doi: 10.1016/j.nmd.2023.09.008. Epub 2023 Oct 1. Neuromuscul Disord. 2023. PMID: 37919208
There are now therapies in clinical trials or real-world use for several disorders including spinal muscular atrophy and Duchenne muscular dystrophy. However, there have been several concerning reports of serious adverse events, including deaths. ...
There are now therapies in clinical trials or real-world use for several disorders including spinal muscular atrophy and Duchenne mus …
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials.
Servais L, Yen K, Guridi M, Lukawy J, Vissière D, Strijbos P. Servais L, et al. J Neuromuscul Dis. 2022;9(2):335-346. doi: 10.3233/JND-210743. J Neuromuscul Dis. 2022. PMID: 34958044 Free PMC article.
In 2019, stride velocity 95th centile (SV95C) became the first wearable-derived digital clinical outcome assessment (COA) qualified by the European Medicines Agency (EMA) for use as a secondary endpoint in trials for Duchenne muscular dystrophy. SV95C was approved via the …
In 2019, stride velocity 95th centile (SV95C) became the first wearable-derived digital clinical outcome assessment (COA) qualified by the E …
"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic.
Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A, Bogdanik L, Lutz C, Davies K, Demonbreun AR, Duan D, Elsey D, Fukada SI, Girgenrath M, Patrick Gonzalez J, Grounds MD, Nichols A, Partridge T, Passini M, Sanarica F, Schnell FJ, Wells DJ, Yokota T, Young CS, Zhong Z, Spurney C, Spencer M, De Luca A, Nagaraju K, Aartsma-Rus A. Gordish-Dressman H, et al. J Neuromuscul Dis. 2018;5(4):407-417. doi: 10.3233/JND-180324. J Neuromuscul Dis. 2018. PMID: 30198876 Free PMC article.
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropatho …
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches f …
17 results