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

Simple item page
dc.contributor.authorPotter, Beth K
dc.contributor.authorHutton, Brian
dc.contributor.authorClifford, Tammy J
dc.contributor.authorPallone, Nicole
dc.contributor.authorSmith, Maureen
dc.contributor.authorStockler, Sylvia
dc.contributor.authorChakraborty, Pranesh
dc.contributor.authorBarbeau, Pauline
dc.contributor.authorGarritty, Chantelle M
dc.contributor.authorPugliese, Michael
dc.contributor.authorRahman, Alvi
dc.contributor.authorSkidmore, Becky
dc.contributor.authorTessier, Laure
dc.contributor.authorTingley, Kylie
dc.contributor.authorCoyle, Doug
dc.contributor.authorGreenberg, Cheryl R
dc.contributor.authorKorngut, Lawrence
dc.contributor.authorMacKenzie, Alex
dc.contributor.authorMitchell, John J
dc.contributor.authorNicholls, Stuart
dc.contributor.authorOffringa, Martin
dc.contributor.authorSchulze, Andreas
dc.contributor.authorTaljaard, Monica
dc.date.accessioned2018-11-07T17:03:26Z
dc.date.available2018-11-07T17:03:26Z
dc.date.issued2017-12-19
dc.date.updated2018-11-07T17:03:26Z
dc.description.abstractAbstract 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.
dc.identifier.citationTrials. 2017 Dec 19;18(1):603
dc.identifier.doihttps://doi.org/10.1186/s13063-017-2327-3
dc.identifier.urihttp://hdl.handle.net/1880/108995
dc.identifier.urihttps://doi.org/10.11575/PRISM/44247
dc.language.rfc3066en
dc.rights.holderThe Author(s).
dc.titleEstablishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
dc.typeJournal Article
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
13063_2017_Article_2327.pdf
Size:
433.94 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
0 B
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Open Access Publications