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

Atalaia, António; Thompson, Rachel; Corvò, Alberto; Carmody, Leigh C.; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmüller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernández-Ferrer, Carles; Reinhard, Carola; Gómez‐Andrés, David; Desaphy, Jean-François; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Rieß, Olaf; Yaou, Rabah Ben; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gümüş, Gülçin; Horváth, Rita; Chinnery, Patrick F.; Laurie, Steven S.; Graeßner, Holm; Robinson, Peter N.; Lochmüller, Hanns; Beltrán, Sergi; Bonne, Gisèle

doi:10.1186/s13023-020-01493-7

Cited by 24 publications

(33 citation statements)

References 14 publications

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“…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.…”

Section: Literature Search and Eligibility Criteriamentioning

confidence: 99%

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

Over

Brüggemann

Lohmann

2021

JND

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Parkinson’s disease (PD) is a disabling neurological condition characterized by the loss of dopaminergic neurons. Currently, the treatment for PD is symptomatic and compensates for the endogenous loss of dopamine production. In cases where the pharmacological therapy is only partly beneficial or results in major wearing-off complications, surgical interventions such as deep brain stimulation may be an alternative treatment. The disease cause often remains unknown, but in some patients, a monogenic cause can be identified. Mutations in at least six genes, LRRK2, SNCA, and VPS35 (dominant forms) or Parkin/PRKN, PINK1, and DJ1/PARK7 (recessive forms) have been unequivocally linked to PD pathogenesis. We here systematically screened 8,576 publications on these monogenic PD forms. We identified 2,226 mutation carriers from 456 papers. Levodopa was the most widely applied treatment; only 34 patients were indicated to be untreated at the time of reporting. Notably, detailed treatment data was rarely mentioned including response quantification (good, moderate, minimal) in 951 and/or dose in 293 patients only. Based on available data, levodopa showed an overall good outcome, especially in LRRK2, VPS35, Parkin, and PINK1 mutation carriers (“good” response in 94.6–100%). Side effects of levodopa therapy were reported in ∼15–40%of levodopa-treated patients across genes with dyskinesias as the most frequent one. Non-levodopa medication was indicated to be administered to <200 patients with mainly good outcome. Only a few reports were available on outcomes of brain surgery. Here, most mutation carriers showed a good response. Importantly, none of the available treatments is harmful to one genetic form but effective in another one. In the light of different medication schemes, the progressive nature of PD, and side effects, an improvement of therapeutic options for PD is warranted including a treatabolome database to guide clinicians in treatment decisions. Further, novel disease-cause-modifying drugs are needed.

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Section: Literature Search and Eligibility Criteriamentioning

confidence: 99%

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

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Brüggemann

Lohmann

2021

JND

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“…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.…”

Section: Methodsmentioning

confidence: 99%

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

Desaphy

Altamura

Vicart

et al. 2021

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Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP. Objective: This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion channelopathies, focusing on the possible link between treatments and genetic background. Methods: We searched databases for randomized clinical trials (RCT) and other human studies reporting pharmacological treatments. Preclinical studies were considered to gain further information regarding mutation-dependent drug effects. All steps were performed by two independent investigators, while two others critically reviewed the entire process. Results: For NMD, RCT showed therapeutic benefits of mexiletine and lamotrigine, while other human studies suggest some efficacy of various sodium channel blockers and of the carbonic anhydrase inhibitor (CAI) acetazolamide. Preclinical studies suggest that mutations may alter sensitivity of the channel to sodium channel blockers in vitro, which has been translated to humans in some cases. For hyperkalemic and hypokalemic PP, RCT showed efficacy of the CAI dichlorphenamide in preventing paralysis. However, hypokalemic PP patients carrying sodium channel mutations may have fewer benefits from DCP compared to those carrying calcium channel mutations. Few data are available for treatment of congenital myopathies. Conclusions: These studies provided limited information about the response to treatments of individual mutations or groups of mutations. A major effort is needed to perform human studies for designing a mutation-driven precision medicine in muscle ion channelopathies.

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“…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 ].…”

Section: Methodsmentioning

confidence: 99%

“…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 ].…”

Section: Methodsmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Atalaia

Yaou

Wahbi

et al. 2021

JND

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Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.

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

Cited by 24 publications

References 14 publications

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

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

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

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

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