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UK Spinal Muscular Atrophy (SMA) Patient Registry

dataset
posted on 11.06.2021, 13:45 by Lindsay Murphy, Chiara Marini-Betollo, Ben Porter

The UK SMA Patient Registry (https://www.treat-nmd.org.uk/registry/) is a joint venture between the John Walton Muscular Dystrophy Research Centre at Newcastle University and the patient group SMA UK (formerly known as the Jennifer Trust, then SMA Support UK). SMA UK is a UK national charity dedicated to supporting people affected by SMA and investing in essential research into causes, treatments and eventually a cure for the condition. The UK SMA Patient Registry is affiliated with the TREAT-NMD Alliance which is an organisation experienced in the design and implementation of rare disease registries.


The purpose of the UK SMA Patient Registry is to register SMA patients from the UK and Ireland so that they may be considered for relevant clinical trials, receive the most up-to-date information regarding standards of care for their disease and help provide the research community with an understanding of SMA prevalence. Anonymised data from patients who register in the UK SMA Patient Registry will also be shared with TREAT-NMD as part of its global network of national SMA registries.


The registry dataset includes patient reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication use, family history and ethnicity. This includes the TREAT-NMD Expanded Core Dataset which includes relevant post-marketing surveillance data items too.


All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion.

History

UoA

Clinical Medicine