SMA-ABC Study V1.0
Research type
Research Study
Full title
Adrenal & Bone Complications in Paediatric Patients Living with Spinal Muscular Atrophy
IRAS ID
348950
Contact name
Min Tsui Ong
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Spinal Muscular Atrophy (SMA) is a condition where the nerves that control muscles get damaged. This causes the muscles to become weak and waste away, making it hard for people with SMA to move, breathe, and swallow. While new treatments have improved the lives of people with SMA, children with this condition are now facing some long-term health problems.
One of these problems is related to the adrenal glands, which are small organs that produce important hormones. Some children with SMA who take a new treatment called onasemnogene abeparvovec need to take strong steroid medicines for a long time. These steroids can sometimes damage the adrenal glands, causing them to stop producing a crucial hormone called cortisol. This can lead to serious health problems. We don't yet know how often this happens, what makes some children more likely to have this problem, or the best way to prevent it.
Children with SMA also can have weaker bones than other children, which means they are more likely to break bones. However, we don't fully understand how common this is, who is most at risk, or whether the new SMA treatments affect bone health.
This research study aims to learn more about bone and adrenal gland problems in children with SMA in the UK. We will look at data collected by an existing database study, the SMA REACH UK study and medical records from children with SMA across the country to find out how often these problems occur and what factors might be involved.
The findings of this study will help us understand how common bone and adrenal gland problems are in children with SMA and what the risks are for developing these. This information may be used to improve the care of children with SMA and to plan future research studies.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
25/WM/0111
Date of REC Opinion
23 May 2025
REC opinion
Favourable Opinion