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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

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dc.contributor.author Atalaia, Antonio
dc.contributor.author Corvò, Alberto
dc.contributor.author Piscia, Davide
dc.contributor.author Matalonga, Leslie
dc.contributor.author Hernández Ferrer, Carles
dc.contributor.author Laurie, Steven, 1973-
dc.contributor.author Lochmüller, Hanns
dc.contributor.author Bonne, Gisèle
dc.date.accessioned 2020-10-30T07:26:44Z
dc.date.available 2020-10-30T07:26:44Z
dc.date.issued 2020
dc.identifier.citation Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L et al. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2020; 15(1):206. DOI: 10.1186/s13023-020-01493-7
dc.identifier.issn 1750-1172
dc.identifier.uri http://hdl.handle.net/10230/45624
dc.description.abstract Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases' patients and their families. Aims: This paper aims to provide guidance and give detailed instructions on how to write homogeneous systematic reviews of rare diseases' treatments in a manner that allows the capture of the results in a computer-accessible form. The published results need to comply with the FAIR guiding principles for scientific data management and stewardship to facilitate the extraction of datasets that are easily transposable into machine-actionable information. The ultimate purpose is the creation of a database of rare disease treatments ("Treatabolome") at gene and variant levels as part of the H2020 research project Solve-RD. Results: Each systematic review follows a written protocol to address one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data capture forms should be built to facilitate the filling of a data capture spreadsheet and to record the application of the inclusion and exclusion criteria to each search result. A PRISMA flowchart is required to provide an overview of the processes of search and selection of papers. A separate table condenses the data collected during the Systematic Review, appraised according to their level of evidence. Conclusions: This paper provides a template that includes the instructions for writing FAIR-compliant systematic reviews of rare diseases' treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data.
dc.description.sponsorship The current paper was written for the Solve-RD project, which has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof Orphanet J Rare Dis. 2020; 15(1):206
dc.rights © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data ma
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/s13023-020-01493-7
dc.subject.keyword Rare diseases
dc.subject.keyword Systematic literature reviews
dc.subject.keyword Treatment knowledge-base
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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