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The UK Myotonic Dystrophy Patient Registry: Linking Patients to National and International Research Projects

Lookup NU author(s): Ben Porter


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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 dataset collected within the registry includes all mandatory and highly encouraged items agreed at the 2009 TREAT-NMD and Marigold Foundation workshop held in Naarden ( downloads/fi le/registries_toolkit/DM1_core_dataset_August2009.pdf). This includes, but is not limited to, patient-reported items such as myotonia (including medication), fatigue/day-time sleepiness (including medication) and current best motor function, as well as clinician-reported items such as genetic confirmation of DM, heart condition and ventilation.Between May 2012 and February 2021, there have been 796 patient registrations. Patients have an average age of 44 years, and there are approximately 5 new registrations per month. For those who have reported a clinical diagnosis, 96% have DM1 (of which 12% have a diagnosis of congenital DM) and 4% have DM2. Overall, 42% have genetic confirmation of their condition and the most commonly reported symptoms are day-time sleepiness/fatigue (75%) and myotonia (72%). Twenty one percent of patients report medication use for day-time sleepiness/fatigue, and 11% percent report medication use for myotonia. The most common medication used for day-time sleepiness/fatigue was modafinil (86%) and for myotonia this was mexiletine (33%). For those who have a heart condition, 20% of patients report medication use for this. The registry has previously supported approximately 28 research enquiries to date, including; the OPTIMISTIC clinical trial where more than 50% of UK participants were recruited via the registry, PHENO-DM1 where 40% of participants were recruited via the registry, and the AMO Pharma phase II clinical trial of tideglusib, where the registry helped recruit 35% of participants. In 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.

Publication metadata

Author(s): Porter B, Turner C, Monckton D, Hilton-Jones D, Bowler M, Roberts M, Rogers M, Rose M, Orrell R, Donachie J, Williams D, Hamilton M, Hewamadduma C, Sodhi J, Marini-Bettolo C

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 16th International Congress on Neuromuscular Diseases 2021

Year of Conference: 2021

Acceptance date: 28/05/2021