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Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy

机译：阿塔脲治疗杜氏肌营养不良的临床潜力

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Duchenne muscular dystrophy (DMD) is an autosomal dominant, X-linked neuromuscular disorder caused by mutations in dystrophin, one of the largest genes known to date. Dystrophin gene mutations are generally transmitted from the mother to male offspring and can occur throughout the coding length of the gene. The majority of the methodologies aimed at treating the disorder have focused on restoring a shorter, although partially functional, dystrophin protein. The approach has the potential of converting a severe DMD phenotype into a milder form of the disease known as Becker muscular dystrophy. Others have focused on ameliorating the disease by targeting secondary pathologies such as inflammation or loss of regeneration. Of great potential is the development of strategies that are capable of restoring full-length dystrophin expression due to their ability to produce a normal, fully functional protein. Among these strategies, the use of read-through compounds (RTCs) that could be administered orally represents an ideal option. Gentamicin has been previously tested in clinical trials for DMD with limited or no success, and its use in the clinic has been dismissed due to issues of toxicity and lack of clear benefits to patients. More recently, new RTCs have been identified and tested in animal models for DMD. This review will focus on one of those RTCs known as ataluren that has now completed Phase III clinical studies for DMD and at providing an overview of the different stages that have led to its clinical development for the disease. The impact that this new drug may have on DMD and its future perspectives will also be described, with an emphasis on the importance of further assessing the clinical benefits of this molecule in patients as it becomes available on the market in different countries.
机译：Duchenne肌营养不良症（DMD）是常染色体显性遗传性X连锁神经肌肉疾病，由肌营养不良蛋白（迄今已知的最大基因之一）突变引起。肌营养不良蛋白基因突变通常从母亲传播给男性后代，并且可以在基因的整个编码长度内发生。旨在治疗该疾病的大多数方法都致力于恢复较短的，虽然部分功能的抗肌萎缩蛋白。该方法有可能将严重的DMD表型转化为称为贝克尔肌营养不良症的较轻形式的疾病。其他人则专注于通过针对继发性疾病（例如炎症或再生丧失）来改善疾病。由于其产生正常的，功能齐全的蛋白质的能力，能够恢复全长肌营养不良蛋白表达的策略的发展潜力很大。在这些策略中，使用可以口服给药的通读化合物（RTC）是理想的选择。庆大霉素先前已经在DMD的临床试验中进行了测试，但收效甚微或没有成功，由于毒性问题和对患者缺乏明显益处，其在临床上的使用已被取消。最近，已经在动物模型中为DMD识别并测试了新的RTC。这篇综述将集中在那些已经被称为Ataluren的RTC之一，该RTC现在已经完成了DMD的III期临床研究，并概述了导致该疾病临床发展的不同阶段。还将描述这种新药可能对DMD产生的影响及其未来前景，重点是进一步评估该分子在不同国家的市场上对患者的临床益处的重要性。

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