Evidence map›Paper›PMID 32787960›Full record

ArticleOrphanet journal of rare diseases2020

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

Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek and 22 more

Erratum issued Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT07072676 (The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.), which is not on this map. Cited by 27 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 10 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07072676 naenrolling by invitationnot on this mapstarted 2025, after this paper: background citation

The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.

TypeinterventionalSponsorLMU KlinikumRan2025 to 2028Enrolled30ConditionsInclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral DystrophyArmsAssistive gait devices combined with physiotherapy
3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 10 syntheses or guidelines pooled it.

  1. Genes · 2026
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  20. Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

32 authors.

Antonio AtalaiaSorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France. antonio.marques-atalaia@inserm.fr.ORCID http://orcid.org/0000-0002-9345-0953
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Alberto CorvoCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Leigh CarmodyThe Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA.
Davide PisciaCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Leslie MatalongaCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Alfons MacayaPaediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
Angela LochmullerDepartment of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Bertrand FontaineSorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
Birte ZurekInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
Carles Hernandez-FerrerCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Carola ReinhardInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
David Gómez-AndrésPaediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
Jean-François DesaphyDepartment of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
Katherine SchonDepartment of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.
Matthew J JenningsDepartment of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
Rabah Ben YaouSorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
Teresinha EvangelistaUnité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.
Thiloka RatnaikeDepartment of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England.
Virginie Bros-FacerEURORDIS - Rare Diseases Europe, Paris, France.
Gulcin GumusEURORDIS - Rare Diseases Europe, Paris, France.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Patrick ChinneryDepartment of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
Steven LaurieCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Holm GraessnerInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
Peter RobinsonThe Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA.
Hanns LochmullerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Sergi BeltranCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Gisèle BonneSorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.

Funding

Medical Research Council MR/N025431/2Wellcome Trust 212219/Z/18/Z
6 · The paper itself

Abstract

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.

Indexed as

Data ManagementRare DiseasesHumansResearch DesignSystematic Reviews as TopicWritingRare diseasesSystematic literature reviewsTreatment knowledge-base

Identifiers

PMID32787960
PMCPMC7424983

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.