Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy

Adult SMA REACH is a <b>Re</b>search and <b>C</b>linical <b>H</b>ub in the UK that established a collaborative clinical network for Spinal Muscular Atrophy (SMA) in 2020 across 19 clinical sites, patient advocacy groups, regulators, and industry. In recent years, the treatment landscape in the SMA setting has rapidly evolved with Nusinersen and Risdiplam receiving conditional approval via a Managed Access Agreement (MAA) in the UK. Here we describe the structure of a Real-World Data (RWD) collection study implemented to collect standardised outcome measures to inform on the natural history of the disease and the impact of novel treatments. The study also reports data to The National Institute for Health and Care Excellence (NICE) and NHS England (NHSE) for the purpose of the MAA's. The Adult SMA REACH database currently contains data from 466 patients and 2255 visits, with more than 8000 functional outcome measure assessments. Adult SMA REACH provides insights into how real-world data can be used to evaluate treatment outcomes in rare diseases, where conducting randomised controlled trials may be difficult. The registry also offers an infrastructure that supports collaborative research and reduces data silos. In this paper we describe the complexity of establishing such a study and clinical network including considerations for adapting this model to other disease areas. Further information on the Adult SMA REACH data collection study and clinical network can be found on the website (https://adultsmareach.co.uk/) and ClinicalTrials.gov (NCT06978985, https://clinicaltrials.gov/study/NCT06978985).

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Journal
Journal of Neuromuscular Diseases
Published
2026-03-13
DOI
https://doi.org/10.1177/22143602261433509
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
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article

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy

Sonia Segovia, Stephanie L. Tanner, L. Murphy, R. Muni Lofra et al.
Journal of Neuromuscular Diseases
Neurogenetic and Muscular Disorders Research
article

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy

Sonia Segovia, Stephanie L. Tanner, L. Murphy, R. Muni Lofra, C. Marini-Bettolo, José Verdú-Díaz, Samantha Fitzsimmons, Jess Page, Giorgio Tasca, Elena Karkkainen, Laura Simms, Grecia Benesperi, Aleksander Carver, Dionne Moat, Jassi Michell-Sodhi
article en

Abstract

Adult SMA REACH is a <b>Re</b>search and <b>C</b>linical <b>H</b>ub in the UK that established a collaborative clinical network for Spinal Muscular Atrophy (SMA) in 2020 across 19 clinical sites, patient advocacy groups, regulators, and industry. In recent years, the treatment landscape in the SMA setting has rapidly evolved with Nusinersen and Risdiplam receiving conditional approval via a Managed Access Agreement (MAA) in the UK. Here we describe the structure of a Real-World Data (RWD) collection study implemented to collect standardised outcome measures to inform on the natural history of the disease and the impact of novel treatments. The study also reports data to The National Institute for Health and Care Excellence (NICE) and NHS England (NHSE) for the purpose of the MAA's. The Adult SMA REACH database currently contains data from 466 patients and 2255 visits, with more than 8000 functional outcome measure assessments. Adult SMA REACH provides insights into how real-world data can be used to evaluate treatment outcomes in rare diseases, where conducting randomised controlled trials may be difficult. The registry also offers an infrastructure that supports collaborative research and reduces data silos. In this paper we describe the complexity of establishing such a study and clinical network including considerations for adapting this model to other disease areas. Further information on the Adult SMA REACH data collection study and clinical network can be found on the website (https://adultsmareach.co.uk/) and ClinicalTrials.gov (NCT06978985, https://clinicaltrials.gov/study/NCT06978985).

Journal of Neuromuscular Diseases
Newcastle upon Tyne Hospitals NHS Foundation Trust (GB), Newcastle upon Tyne Hospital (GB), Muscular Dystrophy UK (GB), NIHR Newcastle Biomedical Research Centre (GB)
Industry, innovation and infrastructure
Openalex Percentile: Top 23%
Neurogenetic and Muscular Disorders Research
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