Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.

Autor:	Potter BK; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada. bpotter@uottawa.ca., Hutton B; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Clifford TJ; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.; Canadian Agency for Drugs and Technologies in Health, Ottawa, ON, Canada., Pallone N; Patient/family partner and Canadian PKU & Allied Disorders Inc, Sparwood, BC, Canada., Smith M; Patient/family partner and Canadian Organization for Rare Disorders, Ottawa, ON, Canada., Stockler S; BC Children's Hospital and University of British Columbia, Vancouver, BC, Canada., Chakraborty P; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Barbeau P; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Garritty CM; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Pugliese M; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada., Rahman A; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada., Skidmore B; Ottawa Hospital Research Institute, Ottawa, ON, Canada., Tessier L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Tingley K; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada., Coyle D; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada., Greenberg CR; University of Manitoba, Winnipeg, MB, Canada., Korngut L; Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada., MacKenzie A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Mitchell JJ; McGill University Health Centre, Montreal, QC, Canada., Nicholls S; Clinical Research Unit, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Ontario Child Health SUPPORT Unit (OCHSU), Ottawa, ON, Canada., Offringa M; Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Schulze A; Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Taljaard M; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.; Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Jazyk:	angličtina
Zdroj:	Trials [Trials] 2017 Dec 19; Vol. 18 (1), pp. 603. Date of Electronic Publication: 2017 Dec 19.
DOI:	10.1186/s13063-017-2327-3
Abstrakt:	Background: Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems. Currently there is no core outcome set (COS) for studies evaluating interventions for paediatric IMD. This protocol outlines a study that will establish COS for each of two relatively common IMD in children, phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Methods: This two-part study is registered with the Core Outcome Measures in Effectiveness Trials (COMET) initiative. Part 1 includes a rapid review and development of an evidence map to identify a comprehensive listing of outcomes reported in past studies of PKU and MCAD deficiency. The review follows established methods for knowledge synthesis, including a comprehensive search strategy, two stages of screening citations against inclusion/exclusion criteria by two reviewers working independently, and extraction of important data elements from eligible studies, including details of the outcomes collected and outcome measurement instruments. The review findings will inform part 2 of our study, a set of Delphi surveys to establish consensus on the highest priority outcomes for each condition. Healthcare providers, families of children with PKU or MCAD deficiency, and health system decision-makers will be invited to participate in two to three rounds of Delphi surveys. The design of the surveys will involve parents of children with IMD who are part of a family advisory forum. Discussion: This protocol is a crucial step in developing the capacity to launch RCTs with meaningful outcomes that address comparative effectiveness questions in the field of paediatric IMD. Such trials will contribute high-quality evidence to inform decision-making by patients and their family members, clinicians, and policy-makers.
Databáze:	MEDLINE
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