Adult SMA REACH: Development and implementation of a standardised data set and data collection research study in the UK Adult SMA population

Research summary

Adult SMA REACH is a project created to capture natural history data on adult patients with spinal muscular atrophy (SMA). SMA is a rare form of motor neuron disease caused by mutations in the survival motor neuron 1 gene (SMN1) and which affects both children and adults. In recent years, the field has seen a dramatic change in available treatments for this cohort of patients. Adult SMA REACH has established a clinical network of health professionals from clinical sites across the UK who provide care to adult patients. The network provides support around the delivery of standards of care and new treatments. Adult SMA REACH will develop a standardised data set and implement UK-wide data collection across all adult SMA clinical sites, creating a prospective long-term follow-up of UK adult SMA patients to achieve a greater knowledge of the natural history of this genetic disease and the effect of different SMA treatment interventions in a real world setting. This will be achieved by collecting key medical data, functional and physiotherapy management of treated and un-treated SMA adult patients via standardised assessments. The natural history data for adult SMA patients will be collected from three sources: the standard of care clinics, UK SMA Patient Registry - collecting PROMS on living with SMA, and a continuum SMA REACH – participants from transition centres (paediatric and adult treatment centres) will be offered the opportunity to join Adult SMA REACH once their site has been setup and all adult data will be transferred via the Certus eCRF database platform. Likewise, those participants that transition to adulthood and adult treating centres will also be offered the opportunity to join Adult SMA REACH. Data set design will enable the capture of specific, relevant data while also permitting specific group analyses according to proposed scientific questions or analyses required for treatment-specific Managed Access Agreements or other schemes.

Principal Investigator

Mr Stefen Brady

Contact us

Email: dendron@ouh.nhs.uk

IRAS number

298064