背景:本文详细介绍了临床医生对无义突变Duchenne型肌营养不良(nmDMD)的非卧床和非卧床患者使用ataluren的共识水平的评估结果。共识是使用改良的Delphi方法得出的,该方法涉及探索阶段,然后是评估阶段。
方法:探索阶段包括对12位儿科神经科医师进行90分钟的虚拟1:1访谈,每位医师照顾30-120位DMD患者,每1或2周与患者接触。受访者管理1至10名服用ataluren的nmDMD患者。TheDiscussionGuidefortheinterviewcanbeviewedasAppendixA.Followingtheexplacementphaseinterviews,采访记录由一个独立的政党分析,以确定共同的主题,意见和意见,并制定了指导小组(作者)审查的43份声明草案,完善并认可了42项声明的最终列表。探索和评估阶段招募参与者的细节可在方法部分找到。
结果:根据对nmDMD治疗经验的医疗保健专业人员(n=20)的共识调查结果,对42项声明中的41项达成共识(>66%的受访者同意)。
结论:达成高度共识的声明表明,应尽快开始使用ataluren治疗,以延缓疾病进展,并使患者尽可能长时间保持门诊。Ataluren适用于治疗Duchenne肌营养不良症,该营养不良症是由肌营养不良蛋白基因的无义突变引起的,2岁及以上的非卧床患者(见每个国家的产品特征摘要)。
BACKGROUND: This paper details the results of an evaluation of the level of
consensus amongst clinicians on the use of
ataluren in both ambulatory and non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The consensus was derived using a modified Delphi methodology that involved an exploration phase and then an evaluation phase.
METHODS: The exploration phase involved 90-minute virtual 1:1 interviews of 12 paediatric neurologists who cared for 30-120 DMD patients each and had patient contact every one or two weeks. The respondents managed one to ten nmDMD patients taking
ataluren. The Discussion Guide for the interviews can be viewed as Appendix A. Following the exploration phase interviews, the interview transcripts were analysed by an independent party to identify common themes, views and opinions and developed 43 draft statements that the Steering Group (authors) reviewed, refined and endorsed a final list of 42 statements. Details of the recruitment of participants for the exploration and evaluation phases can be found under the Methods section.
RESULTS: A consensus was agreed (> 66% of respondents agreeing) for 41 of the 42 statements using results from a consensus survey of healthcare professionals (n = 20) experienced in the treatment of nmDMD.
CONCLUSIONS: The statements with a high
consensus suggest that treatment with
ataluren should be initiated as soon as possible to delay disease progression and allow patients to remain ambulatory for as long as possible.
Ataluren is indicated for the treatment of Duchenne muscular dystrophy that results from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older (see Summary of Product Characteristics for each country).