Karaa Amel, Kriger Joshua, Grier Johnston, Holbert Amy, Thompson John L P, Parikh Sumit, Hirano Michio
The Genetics Unit at the Massachusetts General Hospital, Harvard University, Boston, MA 02114, United States.
Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York, NY 10032, United States.
Mol Genet Metab. 2016 Sep;119(1-2):100-8. doi: 10.1016/j.ymgme.2016.07.005. Epub 2016 Jul 16.
Surveys of mitochondrial disease physicians conducted through the Mitochondrial Medicine Society have shown that virtually all providers recommend a variety of dietary supplements as treatments to their patients in an effort to enhance energy production and reduce oxidative stress. In this survey, we asked patients and their parents about their experiences taking these dietary supplements for mitochondrial disease. The survey was disseminated through the North American Mitochondrial Disease Consortium (NAMDC) and the Rare Disease Clinical Research Network (RDCRN) registries and gathered 162 responses. The study ascertained each patient's mitochondrial disease diagnosis, dietary supplements used, adjunct therapy, and effects of the supplements on symptoms and health. Regardless of the specific underlying mitochondrial disease, the majority of the survey respondents stated they are or have been on dietary supplements. Most patients take more than four supplements primarily coenzyme Q10, l-carnitine, and riboflavin. The majority of patients taking supplements reported health benefits from the supplements. The onset of perceived benefits was between 2weeks to 3months of initiating intake. Supplements seem to be safe, with only 28% of patients experiencing mild side-effects and only 5.6% discontinuing their intake due to intolerance. Only 9% of patients had insurance coverage for their supplements and when paying out of pocket, 95% of them spend up to $500/month. Despite the use of concomitant therapies (prescribed medications, physical therapy, diet changes and other), 45.5% of patients think that dietary supplements are the only intervention improving their symptoms. Some limitations of this study include the retrospective collection of data probably associated with substantial recall bias, lack of longitudinal follow up to document pre- and post-supplement clinical status and second hand reports by parents for children which may reflect parents' subjective interpretation of symptoms severity and supplements effect rather than real patients' experience. More extensive prospective studies will help further elucidate this topic.
通过线粒体医学协会对线粒体疾病医生进行的调查显示，几乎所有医疗服务提供者都向患者推荐各种膳食补充剂作为治疗手段，以努力提高能量生成并减少氧化应激。在本次调查中，我们询问了患者及其父母服用这些用于治疗线粒体疾病的膳食补充剂的经历。该调查通过北美线粒体疾病联盟（NAMDC）和罕见病临床研究网络（RDCRN）登记处进行传播，共收集到162份回复。该研究确定了每位患者的线粒体疾病诊断、所使用的膳食补充剂、辅助治疗方法以及补充剂对症状和健康状况的影响。无论具体的潜在线粒体疾病是什么，大多数接受调查的受访者表示他们正在或曾经服用膳食补充剂。大多数患者服用四种以上的补充剂，主要是辅酶Q10、左旋肉碱和核黄素。大多数服用补充剂的患者报告称补充剂对健康有益。感觉到益处的起效时间为开始服用后的2周 至3个月。补充剂似乎是安全的，只有28%的患者出现轻微副作用，只有5.6%的患者因不耐受而停止服用。只有9%的患者的补充剂有保险覆盖，而自掏腰包支付时，95%的人每月花费高达500美元。尽管使用了伴随疗法（处方药、物理治疗、饮食改变及其他），45.5%的患者认为膳食补充剂是唯一能改善其症状的干预措施。本研究的一些局限性包括数据的回顾性收集可能存在大量回忆偏倚，缺乏纵向随访以记录补充剂服用前后的临床状况，以及父母对儿童情况的二手报告，这可能反映的是父母对症状严重程度和补充剂效果的主观解读，而非真实患者的体验。更广泛的前瞻性研究将有助于进一步阐明这一主题。
