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

  • Atalaia, Antonio1
  • Thompson, Rachel2
  • Corvo, Alberto3
  • Carmody, Leigh4
  • Piscia, Davide3
  • Matalonga, Leslie3
  • Macaya, Alfons5
  • Lochmuller, Angela6
  • Fontaine, Bertrand1
  • Zurek, Birte7
  • Hernandez-Ferrer, Carles3
  • Rheinard, Carola7
  • Gómez-Andrés, David5
  • Desaphy, Jean-François8
  • Schon, Katherine6
  • Lohmann, Katja9
  • Jennings, Matthew J.6
  • Synofzik, Matthis10, 10
  • Riess, Olaf7
  • Yaou, Rabah Ben1
  • And 12 more
  • 1 Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l’Hopital, Paris Cedex 13, F-75 651, France , Paris Cedex 13 (France)
  • 2 Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Canada , Ottawa (Canada)
  • 3 Barcelona Institute of Science and Technology (BIST), Barcelona, Spain , Barcelona (Spain)
  • 4 The Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA , Farmington (United States)
  • 5 Vall d’Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, 08035, Spain , Barcelona (Spain)
  • 6 University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK , Cambridge (United Kingdom)
  • 7 University of Tuebingen, Tübingen, Germany , Tübingen (Germany)
  • 8 University of Bari Aldo Moro, Bari, Italy , Bari (Italy)
  • 9 University of Lübeck, Lübeck, 23538, Germany , Lübeck (Germany)
  • 10 University of Tübingen, Tübingen, Germany , Tübingen (Germany)
  • 11 GHU Pitié-Salpêtrière, Paris, France , Paris (France)
  • 12 Centre de référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France , Paris (France)
  • 13 Cambridge University Hospitals NHS Foundation Trust, Cambridge, England , Cambridge (United Kingdom)
  • 14 University of Cambridge, Cambridge, UK , Cambridge (United Kingdom)
  • 15 EURORDIS – Rare Diseases Europe, Paris, France , Paris (France)
  • 16 University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK , Cambridge (United Kingdom)
  • 17 University of Freiburg, Freiburg im Breisgau, Germany , Freiburg im Breisgau (Germany)
  • 18 The Ottawa Hospital, Ottawa, Canada , Ottawa (Canada)
  • 19 University of Ottawa, Ottawa, Canada , Ottawa (Canada)
Published Article
Orphanet Journal of Rare Diseases
Springer (Biomed Central Ltd.)
Publication Date
Aug 12, 2020
DOI: 10.1186/s13023-020-01493-7
Springer Nature


BackgroundRare 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.AimsThis 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.ResultsEach 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.ConclusionsThis 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.

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