SMA REACH UK

Great Ormond Street Hospital (GOSH) is the coordinating centre of SMA REACH UK.

SMA REACH UK collects information about people with all types of SMA and keeps it in a secure online database. This includes details about their diagnosis and how their SMA is managed. With people’s consent, we collect this information during routine clinic appointments to help us learn more about SMA.

Find out more about SMA REACH UK.

The SMA Research and Clinical Hub (SMA REACH UK) is a UK-wide clinical and research network, aiming to provide an ongoing platform to improve and design measures to capture information that is meaningful to SMA patients and families.

It was established in 2012 as a reboot of the existing SMArtnet registry funded in 2006 and has since expanded to include 23 neuromuscular centres across England, Wales, Scotland and Northern Ireland. 

Based at the UCL Great Ormond Street Institute for Child Health, SMA REACH UK is an established registry run across UCL and Great Ormond Street Hospital. The Chief Investigator of this project is Prof Francesco Muntoni. Dr Mariacristina Scoto and Prof Giovanni Baranello are Co-principal Investigators. 

SMA REACH UK brings together professionals from a range of specialties who see patients with SMA including doctors, physiotherapists, nurses, speech and language therapists.

Data collection

SMA REACH UK aims to collect real-world data on children with SMA in the UK. This includes patients on disease modifying therapies:

• Risdiplam (Evrysdi)
• Nusinersen (Spinraza)
• Onasemnogene Abeparvovec (Zolgensma)
• as well as patients who have not received any of these treatments

All data is collected according to the standard of care recommendations. 

The aim of this data collection is to better understand the impact that these treatments may have on patient’s motor, respiratory and bulbar function, as well as other neurodevelopmental aspects (i.e.  speech development) as well as the drug’s safety and real-world impact of disease modifying therapies on quality of life. 

SMA REACH UK was appointed by NICE and NHS England to collect data on children in the UK receiving Risdiplam or Nusinersen via mandated managed access agreements (MAA) to support the regulatory approval of these treatments in the UK. For each MAA, both standard of care medical and physiotherapy data is collected and entered 6-monthly.  

Collaboration

SMA REACH UK worked in collaboration with the UK SMA Registry as well as with the adult SMA REACH UK network.

The SMA REACH UK project has enabled a thriving network and community of professionals across the country to collaborate on important research and initiatives aimed at improving standards of care for SMA patients. The UK-wide collaboration and connection through the SMA REACH UK network ensures that data from almost all SMA patients across the country are captured within the registry. 

SMA REACH UK is also part of the International SMA Consortium (ISMAC) alongside the US PNCRN and Italian SMA Registry (Telethon). Collaborating on international initiatives such as pioneering new physiotherapy scales and outcome measures, has strengthened knowledge across these networks where there are variations in treatment available and timing of starting treatment. This has fostered learning from the experience across these other networks. 

SMA REACH UK in collaboration with the SMA UK, MDUK and Treat SMA charities and advocacy groups, has led on an increasing number of initiatives to address unmet needs across the SMA community. SMA REACH UK works closely with the newly established SMA Care UK initiative, being actively involved in ensuring collaborative work and alignment of workstreams in reviewing the current standards of care.  

Key contributor in the UK’s efforts to understand and improve the care of individuals with SMA

SMA REACH UK has become a key contributor in the UK’s efforts to understand and improve the care of individuals with SMA. Through its adaptable data collection, network of multidisciplinary professionals, and integration with both national and international initiatives, SMA REACH UK continues to shape the evolving landscape of SMA care. Its role in supporting regulatory pathways, advancing research, and promoting consistency in standards of care ensures that the needs of patients and families remain the key focus. As SMA treatments and initiatives such as newborn screening progress, SMA REACH UK is well-positioned to continue to drive improvements in outcomes and quality of life for both patients and families living with SMA across the UK.

A similar database has been created for those with Duchenne muscular dystrophy, called the North Star Project. This has proved very successful and SMA REACH is working alongside its sister project.