Characterising myotonic dystrophy (DM) and supporting national and international research projects: nine years of the UK DM patient registry

The UK myotonic dystrophy patient registry is a patient self-enrolling online database collecting clinical and genetic information about myotonic dystrophy type 1 (DM1) and type 2 (DM2). The registry was established in May 2012 with support from muscular dystrophy UK and the myotonic dystrophy support group, assisted by the TREAT-NMD Alliance and is coordinated Newcastle University. The registry aims to; facilitate academic and clinical research, better characterise and understand DM, and disseminate information relating to upcoming studies and research advancements. The registry is used to capture longitudinal, self-reported data through an online portal available to patients and clinicians. Where specialised clinical or genetic information is required, the neuromuscular specialist involved in the patient's care can be invited to provide some additional information and the patient can select them from a pre-populated list at the registration stage. The registry has adopted the TREAT-NMD core dataset for DM1. Between May 2012 and March 2021, there were 797 patient registrations. On average there are 5 new registrations per month. For those reporting a clinical diagnosis, 96% have DM1 (of which 12% have a diagnosis of congenital DM) and 4% have DM2. Overall, 42% of patients have had genetic confirmation of their condition provided. Eighty-eight percent of patients also report a positive family history of DM. The most commonly reported symptoms are day-time sleepiness/fatigue (75%) and myotonia (72%). For patients reporting a clinical diagnosis, 21% report medication use for day-time sleepiness/fatigue, and 11% report medication use for myotonia. The registry has previously supported almost 30 research enquiries to date. Since 2020, the registry has facilitated 11 enquiries including an industry enquiry, three COVID-19 surveys, and various surveys capturing information on dysphagia, pregnancy, patient preferences for future treatments and the patient/caregiver experience. The registry continues to be a versatile, cost-effective research tool, helping facilitate and advance a range of DM research. Additional work continues to be done to improve reporting of genetic information on the registry and there are future data linkage plans between the registry and the Newcastle research biobank for rare and neuromuscular diseases.