Department of Biology, Faculty of Science, University of Ottawa, Ottawa, Ontario, Canada.
Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Can J Neurol Sci. 2019 Nov;46(6):717-726. doi: 10.1017/cjn.2019.240.
An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care.
We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities.
We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend "mitochondrial cocktails" for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority.
While Canadian physicians' views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.
深入了解罕见原发性线粒体疾病的诊断和治疗方法，有助于与指南进行基准比较，并为评估性研究确定优先事项。本研究旨在描述加拿大医生对线粒体疾病患者的治疗方法，包括治疗方法的差异。
我们对参与线粒体疾病诊断和/或持续治疗的加拿大医生进行了横断面调查。我们采用滚雪球抽样法确定潜在的合格参与者，通过邮件联系他们多达 5 次，并邀请他们通过邮件或互联网完成问卷。问卷内容包括：为线粒体疾病患者提供治疗的个人经验；诊断和治疗方法；获取检测或治疗的挑战；以及对研究重点的看法。
我们收到了 58 份调查回复（52%的回复率）。大多数（83%）医生表示，他们在临床实践中花费 20%或更少的时间治疗线粒体疾病患者。我们发现诊断护理方面存在重要差异，尽管被认为具有诊断价值的评估方法（如脑部磁共振成像、MRI/MR 光谱）也被发表的指南推荐。大约一半（49%）的医生会建议所有或大多数患者使用“线粒体鸡尾酒疗法”，但我们发现对于特定维生素和辅助因子的建议存在差异。大多数医生建议将开发有效治疗方法的研究作为首要研究重点。
尽管加拿大医生对诊断护理和疾病管理的看法与发表的建议一致，但治疗方法的重要差异反映了持续存在的不确定性领域，需要实证证据来支持和更新标准方案。
