title: The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
abstract: Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional "snapshot" analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included. An almost even distribution was seen between genders and a broad range of ages was present from 8 months to 78 years, with the largest proportion between 30 and 59 years. The two most frequent symptoms were fatigue and myotonia, reported by 79 and 78% of patients, respectively. The severity of myotonia correlated with the severity of fatigue as well as mobility impairment, and dysphagia occurred mostly in patients also reporting myotonia. Men reported significantly more frequent severe myotonia, whereas severe fatigue was more frequently reported by women. Cardiac abnormalities were diagnosed in 48% of patients and more than one-third of them needed a cardiac implant. Fifteen percent of patients used a non-invasive ventilation and cataracts were removed in 26% of patients, 65% of which before the age of 50 years. The registry's primary aim was to facilitate and accelerate clinical research. However, these data also allow us to formulate questions for hypothesis-driven research that may lead to improvements in care and treatment.
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. elizabeth.wood2@ncl.ac.uk.
authors.forename: Libby
authors.identifier: http://orcid.org/0000-0003-3299-4321
authors.initials: L
authors.lastname: Wood
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.|Department of Neurology, RWTH Aachen University, Aachen, Germany.
authors.forename: Isabell
authors.initials: I
authors.lastname: Cordts
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Antonio
authors.initials: A
authors.lastname: Atalaia
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Chiara
authors.initials: C
authors.lastname: Marini-Bettolo
authors.affiliation: Department of Neurology, Queen's Medical Centre, Nottingham, UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Maddison
authors.affiliation: Department of Rehabilitation Medicine, Derby Teaching Hospitals NHS Foundation Trust, Derby, UK.
authors.forename: Margaret
authors.initials: M
authors.lastname: Phillips
authors.affiliation: Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Roberts
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Rogers
authors.affiliation: Wessex Neurological Centre, University Hospital of Southampton, Southampton, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Hammans
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.affiliation: Department of Neurology, NHS Greater Glasgow and Clyde, Southern General Hospital, Glasgow, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Petty
authors.affiliation: Department of Neurology, Royal Free Hospital, London, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Orrell
authors.affiliation: Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, UK.
authors.forename: Darren G
authors.initials: DG
authors.lastname: Monckton
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nikolenko
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Aura Cecilia
authors.initials: AC
authors.lastname: Jimenez-Moreno
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Rachel
authors.initials: R
authors.lastname: Thompson
authors.affiliation: Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
authors.forename: David
authors.initials: D
authors.lastname: Hilton-Jones
authors.affiliation: UCL MRC Centre for Neuromuscular Diseases, Institute of Neurology, London, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Turner
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000453:epidemiology; D002386:Cataract / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004562:Electrocardiography; D005221:Fatigue / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000453:epidemiology / Q000209:etiology; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D065636:Myotonin-Protein Kinase / Q000235:genetics; D012042:Registries; D012737:Sex Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D006113:United Kingdom / Q000453:epidemiology; D055815:Young Adult
chemical_list: D065636:Myotonin-Protein Kinase
keywords: Clinical trials; Myotonic dystrophy; Patient Registries; Trial readiness