Open Research Studies and Reports

Research plays an important role in improving our understanding of spinal muscular atrophy (SMA), developing treatments and improving care and quality of life for people living with SMA.

Here you can find information about research studies that are currently open, as well as reports and findings from completed or ongoing research. We aim to make it easier for people affected by SMA, families and professionals to find out about research taking place in the UK and beyond.

Each listing provides information about the study or report, including its purpose, who it may be relevant to and where to find further information.

SMA community puts its priorities at the heart of future research.

We are excited to share the publication of “From questions to impact in spinal muscular atrophy” in the Orphanet Journal of Rare Diseases.

The SMA Europe-led study brings together the perspectives of people living with spinal muscular atrophy (SMA), families and healthcare professionals across Europe to identify the research priorities that matter most to the SMA community.

Preliminary Results from Barriers to Exercise Survey

Read the preliminary Results from Barriers to Exercise Survey which was taken at SMA UK’s Big Weekend here.

UK Rare Disease Framework

Since 2021, the UK Rare Diseases Framework has been the UK-wide policy which aims to improve the lives of people affected by rare conditions. It will finish in January 2027.

Genetic Alliance UK

‘More than you can imagine’ report looked at what the Framework has achieved and what still needs to be done.

Find out More about the Future for Rare Campaign

Newborn Genomes Programme – Genomics England

The Generation Study is a groundbreaking research study which will sequence the genomes of 100,000 newborn babies with SMA included on the list. The study is in partnership with the NHS to understand whether we can improve our ability to diagnose and treat genetic conditions.

Read more here

5th International Scientific Congress on SMA: March 2026

Organised by SMA Europe this 5th International Congress on SMA was the biggest to date. It brought together over 1,000 scientists, clinicians, pharmaceutical company experts and people living with SMA to present and discuss SMA research.

Read more here

Journal of the Neurological Sciences

UK SMA patient registry: a 3-year patient-reported outcome measures study supporting the drug appraisal of Nusinersen and Risdiplam in spinal muscular atrophy.

Read more here.

Beyond the Infusion: The Caregiver Experience of Gene Therapy

This study has been reviewed by Cardiff University’s School of Medicine Research Ethics Committee and favourable ethical opinion was received on the 7^th of September 2025.

Isabel Smith, an MSc student in Genetic and Genomic Counselling at Cardiff University, conducted research to understand what it is like to live with SMA for those who have received onasemnogene abeparvovec (Zolgensma®) treatment.

Read the report here.

University of Liverpool – Closing March 2027

Researchers from the University of Liverpool are looking to to understand why some children experience changes in liver enzymes following Zolgensma gene therapy, while others do not. Read more here

Guy’s and St Thomas’ NHS Foundation Trust

Are you a parent or carer of a child with Spinal Muscular Atrophy (SMA) Type 1 who has received a disease-modifying therapy (such as Spinraza / Nursinersen, Evrysdi)/Risdiplam or Zolgensma)?

Researchers at Guy’s and St Thomas’ NHS Foundation Trust are inviting parents and carers to take part in an online interview for up to one-hour exploring real-life experiences of feeding and communication in children with SMA Type 1.

Read more and take part here

Oxford University

Virtual Rehabilitation in SMA (VRehabSMA): researchers at the University of Oxford are recruiting children, young people and families living with SMA to help develop innovative virtual reality (VR)-based rehabilitation tools.

The study includes:

A 20 minute online survey to explore exercise, gaming, technology use and views on virtual reality-based rehabilitation. It closes in September 2026 and is for:
* young people aged 12–18 years living with SMA,
* parents and caregivers of children and young people aged 6–18 years living with SMA
A device-testing study (Oxford University): children and young people aged 6–18 years with SMA are invited to test an early prototype VR rehabilitation system. The research team is particularly keen to reruit additional participants and welcomes interest from families outside the Oxford area.

Participation involves:

A pre-visit assessment
Two visits to the University of Oxford
Feedback questionnaires and safety follow-up

Further Information

Contact the research team: gareth.plested@paediatrics.ox.ac.uk

PRISM SMA (Priorities in Information Sharing and Management in Spinal Muscular Atrophy).

We are inviting you to take part in a UK-wide research study called PRISM SMA (Priorities in Information Sharing and Management in Spinal Muscular Atrophy).

Receiving a diagnosis of spinal muscular atrophy (SMA), and making decisions about treatment and care, can be an overwhelming experience. Families are often given a great deal of complex information in a short space of time, and we want to better understand what information is most helpful, what may be missing, and how this information can be shared more effectively.

The South East Genomics Service

Are currently leading a national project to improve genomic reports and the way genetic test results are communicated to patients and families. They are  keen to hear from people with lived experience. Read more and take part here.