ABSTRACT
Nusinersen is one of three drug treatments currently available to children and adults with spinal muscular atrophy (SMA) in England. The use of nusinersen is conditional to a managed access agreement (MAA) since July 2019. This study aims to describe the characteristics of the paediatric patients in the nusinersen MAA. Retrospective data from July 2019 to March 2022 was extracted from the SMA research and clinical hub UK (SMA REACH UK) registry which includes fifteen centres in England. Patients hold a minimum of 2 data entries yearly for each mandated field after the initial baseline assessment. The data report includes, gender, SMA type, SMN2 copy number, date of nusinersen first dose, and mandatory collection fields for medical and physiotherapy data. Medical data collection includes mortality;respiratory function (FVC and PCF, ventilation type and estimation of hours of ventilation);presence of scoliosis, spinal surgery, and Thoracolumbar support (TLSO) use and presence of fractures. The motor function measures include CHOP-INTEND, HINE, RHS, RULM and summary of contractures. 231 patients (129 males, 102 females) with SMA (Type 1=93, Type 2=85, type 3=50, pre-symptomatic=3) are receiving nusinersen via the MAA. The mean age of enrolment is 5.5 years (age range=10days-17years and 9months). There have been four deaths. During the COVID-19 pandemic structured remote assessments were agreed among the network to ensure continued collection of data, however the pandemic impacted functional outcomes collection. The SMA REACH UK registry provides a robust system to collect information on patients to address clinical uncertainties originally identified by the national institute of clinical excellence (NICE). It serves as a systematic model for longer term real-world data collection to evaluate clinical effectiveness of drugs, as well as potential evaluation of economic impact. The SMA reach UK registry has recently expanded to include adult centres. SMA reach UK is part of the international SMA registry (ISMAR) which includes registries in Italy and the US. [ FROM AUTHOR] Copyright of Neuromuscular Disorders is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full . (Copyright applies to all s.)