Muscular Dystrophy UK is a UK charity focusing on muscular dystrophy and related conditions. They seek to cure or find treatments for muscular dystrophy and other muscle-wasting conditions, and to improve the lives of those affected.The charity was founded in 1959 (then known as the Muscular Dystrophy Group and later as the Muscular Dystrophy Campaign) by Lord Walton of Detchant, to help families and children living with muscular dystrophy, and to raise money to fund research to find the causes of and cures for muscular dystrophy. Since then diagnosis of the different forms of muscular dystrophy and related muscle diseases has improved hugely and the charity now provides support for more than 60 different muscle-wasting conditions, as well as funding many key research developments.Lord Attenborough served as the charity's President for 30 years, until 2002, when he became an Honorary Life President.Lord Attenborough remained an inspirational supporter of the charity and the Richard Attenborough Fellowship Fund has been established to honor his commitment to world-class research.Sue Barker took over the role of President in 2004, and is an active supporter, attending many charity events including the charity's annual national conferences.Prince Philip became Patron of the charity in 1966..
ABSTRACT Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best‐Worst Scaling type 2 (BWS‐2) to explore benefit–risk trade‐offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy (MM). Patients with DM1 and MM, along with caregivers, completed a BWS‐2 survey assessing four treatment benefits (muscle strength, energy and endurance, balance, cognition) and two risks (permanent liver damage, temporary blurring of vision). Participants were stratified by disease group and age of onset (< 20, ≥ 20 years). A latent class analysis was used to calculate the relative importance of each treatment attribute. Sociodemographic and disease‐related data were also collected. A total of 270 participants (DM1 n = 143, MM n = 127, including 37 caregivers) were included. BWS‐2 results revealed a priority for improvements in muscle strength (24%), and energy and endurance (23%) across all groups, with caregivers placing a higher priority on cognition improvements (17%) compared to patients. There were no significant differences between disease groups or by age of onset. This study underscores the importance of patient preferences in drug development for rare NMDs. The consensus on treatment priorities across both diseases suggests that overlapping clinical features can inform and expedite future NMD or rare disease drug development.
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, collect patient voice, and to disseminate information relating to upcoming studies and research advancements. The registry also collects real-world evidence and supports data enquiries from industry. The registry captures 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 prepopulated list at the registration stage. The registry is a Core Member of the TREAT-NMD. Global Registries Network for FSHD. As of April 2024, there were 975 active, UK based patient registrations. Almost 60% of patients have had genetic confirmation of their condition. In addition to collecting specific genetic data input by clinicians, the registry is now able to receive digital copies of patient's genetic reports directly via a secure upload portal. The registry has supported 32 registry enquiries to date, recent examples including supporting a Health Economics and Outcomes project, patient preference studies, and surveys capturing information on dysphagia, pregnancy, sleep and the patient/caregiver experience. The registry is 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 to facilitate the collection of patient reported outcome measures and trial preferences. There are also future data linkage plans between the registry and the Newcastle Research Biobank for Rare and Neuromuscular Diseases, to support real-world evidence data collection.
