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

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 computeraccessible 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 machineactionable 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

Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review

“…The literature search and data extraction protocol have been adapted to serve the requirements for a systematic literature review in building a treatabolome [9] from MDSGene (available at http://www. mdsgene.org), which is a database that summarizes and quantifies phenotypic and genotypic data from the literature for hereditary movement disorders.…”

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

“…The systematic review was performed following the guidelines of the Treatabolome methodology designed for writing FAIR-compliant systematic reviews of rare diseases' treatments [12]. All steps were performed by two independent researchers (C.A.…”

Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

“…Published treatments for LMNA -related conditions were collected and appraised following a research question shared by all Treatabolome systematic literature reviews [ 12 ]: “What treatments have been described for this condition/gene/variant; on which specific genetic variants have they been tested; and what is the strength of the associated supporting evidence?”. This review follows the recommendations from the Cochrane Collaboration systematic reviews handbook [ 14 ] and the Centre for Reviews and Dissemination, namely by adopting the Systematic Review Protocol template of the PROSPERO tool [ 15 ].…”

“…This form was inspired by a publicly-available template from the Cochrane Collaboration Project [ 17 ] and followed the Methodological Expectations of Cochrane Intervention Reviews - the MECIR Standards [ 18 ]. We also complied with the Treatabolome Systematic Reviews’ Methodology paper [ 12 ].…”

“…This concept was baptized “Treatabolome” by the authors [ 11 ]. Subsequently, a standard methodology has been defined for other disease groups writing systematic literature reviews (SLR) of treatments in their expertise area [ 12 ]. The Treatabolome concept is developed within the Solve-RD EU project and addresses the need to identify and improve the visibility of the existing specific treatments for rare diseases.…”