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      Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

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          Abstract

          Background

          We aimed to determine whether sodium valproate (VPA) should be contraindicated in all mitochondrial diseases, due to known VPA-induced severe hepatotoxicity in some mitochondrial diseases.

          Methods

          We systematically reviewed the published literature for mitochondrial DNA (mtDNA) and common nuclear genotypes of mitochondrial diseases using PubMed, Ovid Embase, Ovid Medline and MitoPhen databases. We extracted patient-level data from peer-reviewed articles, published until July 2022, using the Human Phenotype Ontology to manually code clinical presentations for 156 patients with genetic diagnoses from 90 publications.

          Results

          There were no fatal adverse drug reactions (ADRs) in the mtDNA disease group (35 patients), and only 1 out of 54 patients with a non- POLG mitochondrial disease developed acute liver failure. There were fatal outcomes in 53/102 (52%) POLG VPA-exposed patients who all harboured recessive mutations.

          Conclusions

          Our findings confirm the high risk of severe ADRs in any patient with recessive POLG variants irrespective of the phenotype, and therefore recommend that VPA is contraindicated in this group. However, there was limited evidence of toxicity to support a similar recommendation in other genotypes of mitochondrial diseases.

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          Most cited references17

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          The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration

          Systematic reviews and meta-analyses are essential to summarise evidence relating to efficacy and safety of healthcare interventions accurately and reliably. The clarity and transparency of these reports, however, are not optimal. Poor reporting of systematic reviews diminishes their value to clinicians, policy makers, and other users. Since the development of the QUOROM (quality of reporting of meta-analysis) statement—a reporting guideline published in 1999—there have been several conceptual, methodological, and practical advances regarding the conduct and reporting of systematic reviews and meta-analyses. Also, reviews of published systematic reviews have found that key information about these studies is often poorly reported. Realising these issues, an international group that included experienced authors and methodologists developed PRISMA (preferred reporting items for systematic reviews and meta-analyses) as an evolution of the original QUOROM guideline for systematic reviews and meta-analyses of evaluations of health care interventions. The PRISMA statement consists of a 27-item checklist and a four-phase flow diagram. The checklist includes items deemed essential for transparent reporting of a systematic review. In this explanation and elaboration document, we explain the meaning and rationale for each checklist item. For each item, we include an example of good reporting and, where possible, references to relevant empirical studies and methodological literature. The PRISMA statement, this document, and the associated website (www.prisma-statement.org/) should be helpful resources to improve reporting of systematic reviews and meta-analyses.
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            THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

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              PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

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                Author and article information

                Journal
                BMJ Neurol Open
                BMJ Neurol Open
                bmjno
                bmjno
                BMJ Neurology Open
                BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
                2632-6140
                2024
                5 June 2024
                : 6
                : 1
                : e000650
                Affiliations
                [1 ] departmentDepartment of Paediatrics , Ringgold_2152University of Cambridge , Cambridge, UK
                [2 ] departmentDepartment of Paediatrics , Ringgold_2592Colchester Hospital University NHS Foundation Trust , Colchester, UK
                [3 ] departmentDepartment of Clinical Genetics , Ringgold_2153Cambridge University Hospitals NHS Foundation Trust , Cambridge, UK
                [4 ] departmentDepartment of Medical Genetics , Ringgold_496190Cambridge Biomedical Campus , Cambridge, UK
                [5 ] Ringgold_8964University College London Hospitals NHS Foundation Trust , London, UK
                [6 ] Ringgold_6123University of Nottingham , Nottingham, UK
                [7 ] departmentCambridge Biomedical Campus Department of Clinical Neurosciences , Ringgold_2152University of Cambridge , Cambridge, Cambridgeshire, UK
                [8 ] departmentMedical Research Council Mitochondrial Biology Unit , Ringgold_496190Cambridge Biomedical Campus , Cambridge, UK
                Author notes
                [Correspondence to ] Prof Patrick F Chinnery; pfc25@ 123456cam.ac.uk
                Author information
                http://orcid.org/0000-0001-5400-104X
                http://orcid.org/0000-0002-3076-3178
                http://orcid.org/0009-0001-3763-5881
                http://orcid.org/0000-0001-5845-9429
                https://orcid.org/0000-0001-8054-8954
                https://orcid.org/0000-0002-9841-170X
                http://orcid.org/0000-0002-7065-6617
                Article
                bmjno-2024-000650
                10.1136/bmjno-2024-000650
                11163645
                38860231
                6560a27a-60ac-4dcb-83eb-9b625adcb44f
                © Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.

                This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See:  https://creativecommons.org/licenses/by/4.0/.

                History
                : 16 January 2024
                : 14 April 2024
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100000265, Medical Research Council;
                Award ID: MR/S005021/1
                Award ID: MR/S035699/1
                Award ID: MR/V009346/1
                Funded by: FundRef http://dx.doi.org/10.13039/501100000275, Leverhulme Trust;
                Award ID: RPG-2018-408
                Funded by: FundRef http://dx.doi.org/10.13039/501100002927, Addenbrooke's Charitable Trust, Cambridge University Hospitals;
                Award ID: G100142
                Funded by: FundRef http://dx.doi.org/10.13039/100010269, Wellcome Trust;
                Award ID: 212219/Z/18/Z
                Award ID: 224486/Z/21/Z
                Funded by: FundRef http://dx.doi.org/10.13039/501100018956, NIHR Cambridge Biomedical Research Centre;
                Award ID: BRC-1215-20014
                Categories
                Systematic Review
                1506
                Custom metadata
                unlocked

                mitochondrial disorders,neurogenetics,neuropharmacology,epilepsy,genetics

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