Rare diseases: building a Treatabolome

Rare diseases are rare in terms of the number of affected individuals, but globally affect around 6% of the population. In more than 70% of cases, they are genetically determined. Their rarity leads to a late diagnosis, 25% of patients wait 5 to 30 years. It is therefore essential to draw the attention of patients and clinicians to the gene and variant-specific therapeutics existing at the time of diagnosis to prevent delays in treatment from adding to diagnostic wandering of patients with rare diseases and their families.

An international team including researchers from the Institute of Myology publishes here an article which aims to provide advice and detailed instructions on how to write homogeneous systematic reviews on the subject of rare disease treatments, so as to allow the entry of results in computer accessible form. Published results should adhere to FAIR’s guiding principles for scientific data management and stewardship to facilitate the extraction of data sets that can easily be translated into machine-readable information. The ultimate goal is to create a database of treatments for rare diseases (“Treatabolome”) at the level of genes and variants within the framework of the H2020 Solve-RD research project.

Each systematic review follows a written protocol for treating one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data entry forms should be developed to facilitate the completion of a data entry spreadsheet and to record the application of inclusion and exclusion criteria to each search result. A PRISMA flowchart is needed to provide an overview of the article search and selection processes. A separate table summarizes the data collected during the Systematic Review, assessed according to their level of evidence.

This article provides a template that includes instructions for writing FAIR-compliant systematic reviews of rare disease treatments that build a Treatabolome database to complement existing diagnostic and management tools with awareness data to treatment.


A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Rheinard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7. PMID: 32787960; PMCID: PMC7424983.