Trial reportNeurology2019
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Erratum issuedOpen access · bronzeAbstract readClinical TrialMulticenter StudyObservational Study
In one paragraph
Trial report in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 54 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 2 pooled it
6.7field-weighted citation impact, top 2% of its field
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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Non-invasive mechanical ventilation for chronic hypoventilation in myotonic dystrophy.The Cochrane database of systematic reviews · 2025Pooled it
- Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2024Guideline
- Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial.Journal of neurology · 2025Trial
- Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.BMC medicine · 2022Trial
- Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.Journal of neuromuscular diseases · 2021Trial
- Disruption of RNA metabolism and its impact on protein homeostasis.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2026Review
- Myotonia: Recognition, Evaluation, and Differential Diagnosis.Muscle & nerve · 2026Review
- CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.Human molecular genetics · 2026Article
- MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1.Nature communications · 2026Article
- Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.BMC neurology · 2026Article
- Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis.Biology · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Progressive cardiac phenotypes and reduced reversibility from long-term CUGexp RNA expression in a DM1 mouse model.JCI insight · 2026Article
- The novel (TCTG)Human genomics · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1.Molecular therapy. Methods & clinical development · 2025Article
- Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.Investigative ophthalmology & visual science · 2025Article
- Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies.Biomedicines · 2025Article
- Natural Antioxidants Reduce Oxidative Stress and the Toxic Effects of RNA-CUGAntioxidants (Basel, Switzerland) · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 1 institution in 3 countries.
Sarah A CummingFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0002-0201-3660
Cecilia Jimenez-MorenoFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0002-0488-9631
Kees OkkersenFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0003-2475-1143
Stephan WenningerFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0001-8407-3642
Ferroudja DaidjFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.
Fiona HogarthFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.
Roberta LittlefordFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0003-4868-0132
Gráinne GormanFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0002-7585-3409
Guillaume BassezFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.
Benedikt SchoserFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0002-2757-8131
Hanns LochmüllerFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0003-2324-8001
Baziel G M van EngelenFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.ORCID 0000-0001-9867-9047
Darren G MoncktonFrom the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK. darren.monckton@glasgow.ac.uk.ORCID 0000-0002-8298-8264
OPTIMISTIC Consortium
Radboud University Nijmegen · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate the role of genetic variation at the
methodsWe used small pool PCR to correct age at sampling biases and estimate the progenitor allele CTG repeat length and somatic mutational dynamics, and AciI digests and repeat primed PCR to test for the presence of variant repeats.
resultsWe confirmed disease severity is driven by progenitor allele length, is further modified by age, and, in some cases, sex, and that patients in whom the CTG repeat expands more rapidly in the soma develop symptoms earlier than predicted. We revealed a key role for variant repeats in reducing disease severity and quantified their role in delaying age at onset by approximately 13.2 years (95% confidence interval 5.7-20.7, 2-tailed
conclusionsCareful characterization of the
Indexed as
Severity of Illness IndexAdultCohort StudiesFemaleHumansMaleMyotonic DystrophyMyotonin-Protein KinasePolymerase Chain ReactionQuality of LifeDMPK protein, humanMyotonin-Protein Kinase
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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Registered trials
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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.