Background: Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions. Clinical effectiveness trials of IMD interventions could be supported through the development of core outcome sets (COSs), a recommended minimum set of standardized, high-quality outcomes and associated outcome measurement instruments to be incorporated by all trials in an area of study. We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU), by reviewing published literature to describe outcomes reported by authors, identify heterogeneity in outcomes across studies, and assemble a candidate list of outcomes. Methods: We used a comprehensive search strategy to identify primary studies and guidelines relevant to children with MCAD deficiency and PKU, extracting study characteristics and outcome information from eligible studies including outcome measurement instruments for select outcomes. Informed by an established framework and a previously published pediatric COS, outcomes were grouped into five, mutually-exclusive, a priori core areas: growth and development, life impact, pathophysiological manifestations, resource use, and death.

BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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.

Background In 2013, the Accreditation Council for Graduate Medical Education (ACGME) transitioned into a new accreditation system to reduce burden, focus on outcomes, and promote innovation and improvement. One component is a self-study that includes aims, an environmental assessment, and setting improvement priorities. The ACGME initiated voluntary site visits following the self-study.

BackgroundBreast cancer and its treatment can have many physical and psychological effects on affected women. Women’s personal goals may provide insight into their priorities and motivations in the context of breast cancer. Incorporating personal goal-setting into support and care interventions may have an effect on psychological well-being. This protocol describes our scoping review methods, the aim of which is to examine and map the existing evidence on personal goal-setting among women with a breast cancer diagnosis.MethodsOur scoping review will search for published, full-length articles, where personal goal-setting is a major component of the study, and the study population is females with breast cancer. MEDLINE, PsycInfo, CINAHL, EMBASE, the Cochrane Library, and AMED databases will be searched. Two independent reviewers will conduct all screening and extract data. Descriptive information about the studies, participants, any interventions, measurement tools, outcomes, and results will be reported.DiscussionThe results from this review will chart the literature, contributing to optimizing the incorporation of personal goal-setting approaches into effective interventions for the care and support of women with breast cancer.Electronic supplementary materialThe online version of this article (10.1186/s13643-018-0794-6) contains supplementary material, which is available to authorized users.

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