ABSTRACT
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 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, selfreported 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 is a Core Member of the TREAT-NMD Global Registries Network for DM1. Between May 2012 and January 2022, there were 834 patient registrations. On average there are 5 new registrations per month. For those reporting a clinical diagnosis, 96% have DM1 (of which 14% have a diagnosis of congenital DM) and 4% have DM2. Overall, 40% of patients have had genetic confirmation of their condition provided. 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.
ABSTRACT
The UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry is a patient self-enrolling online database collecting clinical and genetic information about FSHD type 1 (FSHD1) and type 2 (FSHD2). The registry was established in May 2013 with support from Muscular Dystrophy UK and is coordinated by Newcastle University. The registry aims to facilitate academic and clinical research, better characterise and understand FSHD, and disseminate information relating to upcoming studies and research advancements. The registry is used to capture longitudinal, selfreported 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 is a Core Member of the TREAT-NMD Global Registries Network for FSHD. Between May 2013 and January 2022, there were 1,074 patient registrations, with 84% based in the UK. On average, there are 9 new registrations per month. For those reporting a clinical diagnosis, 97% have FSHD or FSHD1, and 3% have FSHD2. Overall, 46% of patients have had genetic confirmation of FSHD1 provided. The registry has previously supported almost 30 registry enquiries to date. Since 2020, the registry has facilitated 12 enquiries including, three COVID-19 surveys, and various surveys capturing information on dysphagia, pregnancy, sleep and the patient/caregiver experience. The registry is currently one of the largest national FSHD patient registries and is an example of a versatile, cost-effective research tool, helping facilitate and advance a wide range of FSHD 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.