P.41 Adult SMA REACH: development and implementation data collection study in the UK Adult SMA population

Abstract

Spinal muscular atrophy (SMA) is a form of motor neuron disease caused by a mutation in the survival motor neuron 1 gene (SMN1), which results in a wide disease spectrum affecting children and adults. There are four subtypes of SMA depending on age of onset and maximum acquired motor function. The recent advances in drug development have highlighted an urgent need to establish stronger clinical networks and data collection to gain a better understanding of the impact of new drugs on the natural history of the disease. In collaboration with SMA Reach UK (paediatric and data collection network) and the UK SMA Patient Registry, the Adult SMA Reach study aims to implement a standardised dataset and use systematic data collection to generate knowledge on the natural history and the evolving phenotype of adult SMA, the impact of new treatments and management. Adult SMA REACH is a longitudinal observational study, planning to collect clinical data and outcome measures about SMA patients age ≥16 years with genetically confirmed 5q SMA, with a sample size of approximately 209 treated patients and 140 non-treated patients. A working group of UK neuromuscular clinicians and physiotherapists has designed a specific data collection form and the data collection will be performed using an online database, specifically for this study. The visit schedule will be at baseline and thereafter 4-6 monthly for Nusinersen-treated patients and a minimum of 12 monthly, for non-treated patients or treated with other SMA treatments. Data monitoring will be carried out to ensure data quality. This study will link with the UK SMA Patient Registry and collect vital Patient Reported Outcome Measures. Data from the first year of data collection will be presented in the conference. This study will help us to collect information about the natural history of the disease, the impact of new treatments, monitor the safety of treatments and the implementation of new functional scales. Spinal muscular atrophy (SMA) is a form of motor neuron disease caused by a mutation in the survival motor neuron 1 gene (SMN1), which results in a wide disease spectrum affecting children and adults. There are four subtypes of SMA depending on age of onset and maximum acquired motor function. The recent advances in drug development have highlighted an urgent need to establish stronger clinical networks and data collection to gain a better understanding of the impact of new drugs on the natural history of the disease. In collaboration with SMA Reach UK (paediatric and data collection network) and the UK SMA Patient Registry, the Adult SMA Reach study aims to implement a standardised dataset and use systematic data collection to generate knowledge on the natural history and the evolving phenotype of adult SMA, the impact of new treatments and management. Adult SMA REACH is a longitudinal observational study, planning to collect clinical data and outcome measures about SMA patients age ≥16 years with genetically confirmed 5q SMA, with a sample size of approximately 209 treated patients and 140 non-treated patients. A working group of UK neuromuscular clinicians and physiotherapists has designed a specific data collection form and the data collection will be performed using an online database, specifically for this study. The visit schedule will be at baseline and thereafter 4-6 monthly for Nusinersen-treated patients and a minimum of 12 monthly, for non-treated patients or treated with other SMA treatments. Data monitoring will be carried out to ensure data quality. This study will link with the UK SMA Patient Registry and collect vital Patient Reported Outcome Measures. Data from the first year of data collection will be presented in the conference. This study will help us to collect information about the natural history of the disease, the impact of new treatments, monitor the safety of treatments and the implementation of new functional scales.