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The UK FSHD Patient Registry: Linking Patients to National and Internationals Research Projects

Lookup NU author(s): Ben Porter, Robert Muni Lofra, Dr Chiara Marini Bettolo


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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, assisted by the TREAT-NMD Alliance 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, 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 (https:// FSH_core_dataset_May2011.pdf). This includes but is not limited to patient-reported items such as symptoms (including weakness), ventilation status and current best motor function as well as clinician-reported items such as genetic confirmation of FSHD.Between May 2013 and February 2021, 1,026 participants registered with the UK FSHD Patient Registry. On average, 9 new participants register each month. For those who have a clinical diagnosis, 96% have FSHD or FSHD1, and 4% have FSHD2. Overall, 48% have genetic confirmation of their condition and the most commonly reported weakness was shoulder (92%), followed by hip (71%), facial (70%), then ankle (67%). The average age of shoulder weakness onset was 24 ± 15 years, with 50% of all shoulder weakness onset reported between the years of 0 – 19. For pain, patients rated shoulder and lower back pain the highest compared to arm, hand, hip, leg and foot pain on a universal pain assessment tool. As this was developed specifically for the registry it requires further validation. Twenty six percent of patients who provided information on pain medication (175/603) collectively reported using 37 different pain medications. Excluding over the counter pain medications; ibuprofen (81%), paracetamol (63%) and co-codamol (44%), the most common pain medications used were tramadol (19%), amitriptyline (18%), naproxen (14%) and diclofenac (11%). The registry has previously supported approximately 27 registry enquiries including; the ACTMuS clinical trial, where the UK FSHD Patient Registry helped recruit more participants than any other referral route, and a natural history study of infantile onset FSHD, where 42% of patients were recruited from registry. In the past 12 months, 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 that can help 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.

Publication metadata

Author(s): Porter B, Orrell R, Graham A, Watt S, Lunt P, Norwood F, Roberts M, Willis T, Matthews E, Muni-Lofra R, Marini-Bettolo C

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: International Congress on Neuromuscular Diseases 2021

Year of Conference: 2021

Acceptance date: 28/05/2021


DOI: 10.3233/JND-219006