Menu
Welcome to the
Adult SMA REACH website
What is Adult SMA REACH?
Adult SMA REACH (Research and Clinical Hub) is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche.
Currently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug – Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA). Further information about Managed Access can be found here.
The advances in drug development have highlighted an urgent need to establish stronger clinical networks and data collection to monitor and gain a better understanding of the impact of new drugs on the natural history of the disease.
The Objectives of Adult SMA REACH
The collection of long-term SMA data is vital to the continuous improvement of disease progression of SMA. The first step in Adult SMA REACH was to establish connections between the UK sites caring for adult SMA patients, now this is in place, our objectives are to:
- Create a clinical network to provide support on the delivery of standards of care, research and new therapies.
- Establish a standardized care provision and service development
- Correlate patient-entered and clinician-entered data for both paediatric and adults through connections with UK SMA Patient Registry and SMA REACH UK
- Generate knowledge on the natural history and evolving phenotype of Adult SMA
- Monitor patient safety accessing new treatments
- Implement new functional scales and patient reported outcomes (PROMs)
Who is Involved in the Study? Where are our sites located?
Patients over the age of 16 years with 5q SMA are invited to participate through their local SMA clinic.
Our Adult SMA REACH team are based at the John Walton Muscular Dystrophy Research Centre (JWMDRC) in Newcastle. You can find more information about our team and their roles in Meet the Team.
Our 20 participating sites are located throughout the United Kingdom in England, Scotland, Northern Ireland and Wales. Please see Our Networks for a site map and more details on where to find participating sites near you.
Who We Work with
We work alongside SMA REACH UK and the UK SMA Patient Registry with the goal of systematising and harmonising the collection of paediatric and adult patient data, enabling the integrated and longitudinal analysis of clinical and patient-reported data. We also facilitate data collection transition from paediatric to adult care.
We also work closely with SMA patient organisations, to find out more please visit our Ongoing Research page. Our page has some further links to patient organisations, all of which have lots of useful information relating to SMA.
When did Adult SMA REACH begin?
Our study was approved in June 2021. It began during the Managed Access Agreement (MAA) of Risdiplam and Nusinersen. Please see For Patients for more study information.
What is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease, which specifically affects motor neurons within the spinal cord – resulting in muscle weakness and progressive degeneration, causing difficulty moving, breathing and muscle problems.
It is caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a heterogeneous disease spectrum affecting infants and adults.
There are five main subtypes (SMA 0, 1, 2, 3, 4), classified by age of onset and maximum acquired motor function – symptoms can begin anywhere from less than 6 months of age to between 18-35.
To find out more details about SMA, please visit our For Patients section, here there are links to these organisations websites that are filled with useful information and resources if you wish to gain a greater insight into SMA.
Fact of the week!
Blood tests are often used to diagnose spinal muscular atrophy.
These blood tests can identify at least 95% of SMA types 1, 2 and 3, and could also identify if a person is a carrier of the genes that cause SMA.
