杜氏肌营养不良
肌营养不良蛋白
临床试验
医学
外显子跳跃
肌营养不良
生物信息学
疾病
不利影响
内科学
外显子
基因
生物
遗传学
选择性拼接
作者
Theodora Markati,Maryam Oskoui,Michelle A. Farrar,Tina Duong,Nathalie Goemans,Laurent Servais
标识
DOI:10.1016/s1474-4422(22)00125-9
摘要
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. Major advances have led to the development of gene therapies, tools that induce exon skipping, and other therapeutic approaches, including treatments targeting molecular pathways downstream of the absence of functional dystrophin. However, glucocorticoids remain the only treatment unequivocally shown to slow disease progression, despite the adverse effects associated with their long-term use. Besides glucocorticoids, which are standard care, five compounds have received regulatory approval in some but not all jurisdictions, with further efficacy results being awaited. Several compounds with promising results in early-phase clinical trials have not met their efficacy endpoints in late-phase trials, but the clinical development of many other compounds is ongoing. The current landscape is complicated by the number of compounds in various stages of development, their various mechanisms of action, and their genotype-specific applicability. The difficulties of clinical development that arise from both the rarity and variability of Duchenne muscular dystrophy might be overcome in the future by use of sensitive biomarkers, natural history data, and ameliorated trial designs.
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