Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
ICON plc, Stockholm, Sweden.
Acta Paediatr. 2019 Feb;108(2):224-230. doi: 10.1111/apa.14568. Epub 2018 Oct 2.
Ataluren has been approved for treating nonsense mutation Duchenne muscular dystrophy (nmDMD), and there are currently discussions concerning drug access and applications beyond the development programme. This study provides an overview of nmDMD and ataluren, stipulates clinical rules for treatment initiation and discontinuation and proposes a model for the implementation of orphan drugs in clinical practice in Sweden.
This was a targeted mini-review of the literature from 1995 to 2018, which included cohort studies, guidelines, randomised clinical trials, clinical commentaries and reviews. The review covered the pathophysiology, epidemiology and burden of nmDMD and the clinical programme for ataluren.
Based on the current evidence, and our experiences, we recommend that patients with nmDMD should be given ataluren as soon as possible after diagnosis and this treatment should continue until they reach a forced vital capacity of <30%, and, or, a score of at least six on the Brooke upper extremity scale. We propose an implementation model that comprises a coordinating specialist physician and a national expert committee responsible for providing clinical intelligence to ensure appropriate use.
Our clinical recommendations and proposed implementation model will inform the optimum medical management of nmDMD in Sweden and help ensure timely, equal access to ataluren and similar orphan drugs.
依鲁替尼已被批准用于治疗无义突变型杜氏肌营养不良症（nmDMD），目前正在讨论药物的使用范围，超越了开发计划。本研究概述了 nmDMD 和依鲁替尼，规定了治疗启动和停药的临床规则，并提出了在瑞典将孤儿药应用于临床实践的模型。
这是对 1995 年至 2018 年文献的有针对性的小型综述，包括队列研究、指南、随机临床试验、临床评论和综述。综述涵盖了 nmDMD 的病理生理学、流行病学和负担以及依鲁替尼的临床方案。
基于目前的证据和我们的经验，我们建议 nmDMD 患者应在确诊后尽快接受依鲁替尼治疗，并且应持续治疗，直到他们的用力肺活量<30%，或 Brooke 上肢量表评分至少为 6 分。我们提出了一个实施模型，包括协调专家医生和一个国家专家委员会，负责提供临床信息，以确保合理使用。
我们的临床建议和提出的实施模型将为瑞典 nmDMD 的最佳医疗管理提供信息，并有助于确保及时、平等地获得依鲁替尼和类似的孤儿药。
