ArticleEmerging topics in life sciences2019
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.
Article in Emerging topics in life sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 9 of them syntheses that pooled it.
What it found
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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.
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.
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Who cites it
44 citing papers in PubMed, 9 syntheses or guidelines pooled it, 82 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review.Journal of neuromuscular diseases · 2021Pooled it
- Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.Current neuropharmacology · 2021Pooled it
- Natural multi-target inhibitors from Adhatoda vasica and Calotropis procera for dermal regeneration.Die Naturwissenschaften · 2026Article
- Review
- Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.Neurology international · 2026Article
- A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders.Scientific data · 2026Article
- Therapeutic Management in anJournal of clinical neurology (Seoul, Korea) · 2026Article
- Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes.Brain communications · 2026Article
- Article
- Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice.Human molecular genetics · 2025Article
- Review of 40 genes causing congenital myasthenic syndromes.Journal of human genetics · 2025Review
- Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.Biomedicines · 2024Article
- Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 5 countries.
Funding
Abstract
Despite recent scientific advances, most rare genetic diseases - including most neuro-muscular diseases - do not currently have curative gene-based therapies available. However, in some cases, such as vitamin, cofactor or enzyme deficiencies, channelopathies and disorders of the neuromuscular junction, a confirmed genetic diagnosis provides guidance on treatment, with drugs available that may significantly alter the disease course, improve functional ability and extend life expectancy. Nevertheless, many treatable patients remain undiagnosed or do not receive treatment even after genetic diagnosis. The growth of computer-aided genetic analysis systems that enable clinicians to diagnose their undiagnosed patients has not yet been matched by genetics-based decision-support systems for treatment guidance. Generating a 'treatabolome' of treatable variants and the evidence for the treatment has the potential to increase treatment rates for treatable conditions. Here, we use the congenital myasthenic syndromes (CMS), a group of clinically and genetically heterogeneous but frequently treatable neuromuscular conditions, to illustrate the steps in the creation of a treatabolome for rare inherited diseases. We perform a systematic review of the evidence for pharmacological treatment of each CMS type, gathering evidence from 207 studies of over 1000 patients and stratifying by genetic defect, as treatment varies depending on the underlying cause. We assess the strength and quality of the evidence and create a dataset that provides the foundation for a computer-aided system to enable clinicians to gain easier access to information about treatable variants and the evidence they need to consider.
Identifiers
What OpenQuestion holds
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.