School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Patient partner, Canadian Organization for Rare Disorders, Toronto, Canada.
Pediatrics. 2021 Aug;148(2). doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15.
Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was to develop core outcome sets (COSs) for these diseases to facilitate meaningful future evidence generation and enhance the capacity to compare and synthesize findings across studies.
Parents and/or caregivers, health professionals, and health policy advisors completed a Delphi survey and participated in a consensus workshop to select core outcomes from candidate lists of outcomes for MCAD deficiency and PKU. Delphi participants rated the importance of outcomes on a nine-point scale (1-3: not important, 4-6: important but not critical, 7-9: critical). Candidate outcomes were progressively narrowed down over 3 survey rounds. At the workshop, participants evaluated the remaining candidate outcomes using an adapted nominal technique, open discussion, and voting. After the workshop, we finalized the COSs and recommended measurement instruments for each outcome.
There were 85, 61, and 53 participants across 3 Delphi rounds, respectively. The candidate core outcome lists were narrowed down to 20 outcomes per disease to be discussed at the consensus workshop. Voting by 18 workshop participants led to COSs composed of 8 and 9 outcomes for MCAD deficiency and PKU, respectively, with measurement recommendations.
These are the first known pediatric COSs for MCAD deficiency and PKU. Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.
由于结局选择和测量的极大变异性，指导小儿中链酰基辅酶 A 脱氢酶 (MCAD) 缺乏症和苯丙酮尿症 (PKU) 治疗的证据支离破碎。我们的目标是为这些疾病制定核心结局集 (COS)，以促进未来有意义的证据生成，并提高跨研究比较和综合发现的能力。
家长和/或照顾者、卫生专业人员和卫生政策顾问完成了一项德尔菲调查，并参加了共识研讨会，从 MCAD 缺乏症和 PKU 的候选结局列表中选择核心结局。德尔菲参与者根据九点量表 (1-3：不重要，4-6：重要但非关键，7-9：关键) 对结局的重要性进行评分。候选结局在 3 轮调查中逐步缩小。在研讨会上，参与者使用改编的名义技术、公开讨论和投票来评估剩余的候选结局。在研讨会之后，我们确定了 COS，并为每个结局推荐了测量工具。
分别有 85、61 和 53 名参与者参加了 3 轮德尔菲调查。候选核心结局列表缩小到每个疾病 20 个结局，在共识研讨会上进行讨论。18 名研讨会参与者的投票导致 MCAD 缺乏症和 PKU 的 COS 分别由 8 和 9 个结局组成，并提出了测量建议。
这些是小儿 MCAD 缺乏症和 PKU 的首批已知的儿科 COS。在未来的研究中采用将有助于确保最佳利用有限的研究资源，最终改善这些罕见疾病儿童的护理。
