Priorities in information sharing and management in SMA
Research type
Research Study
Full title
PRISM SMA: Priorities in information sharing and management in Spinal Muscular Atrophy
IRAS ID
349476
Contact name
Min Ong
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
This project proposes a nationwide study to help enhance the care and support we offer to families of children that have been diagnosed with spinal muscular atrophy (SMA), a rare, genetic, neuromuscular disorder, which affects around 1 in 14,900 births. Untreated SMA causes irreversible nerve loss and muscle wasting, leading to reduced quality of life and eventual death.
Receiving a diagnosis of SMA is extremely distressing for families and until recently there were no available treatments for the condition. In the last 7 years, however, 3 therapies have become available, nusinersen (Spinraza®), risdiplam (Evrysdi®) and onasemnogene abeparvovec (Zolgensma®). These treatments are time critical, with the longer left before treatment leading to further irreversible nerve loss and muscle weakness. Upon receiving a diagnosis, a vast amount of information is provided for families by healthcare teams, which must be digested quickly and potentially leads to important questions being missed by the family.
This project looks to gather insights through surveys and qualitative interviews from families, care givers and healthcare professionals who have been through this journey, generating new knowledge of the provision of care nationwide, leading to new developments in how we provide the care. We will identify what matters most to those affected by SMA, using this information in conjunction with families to help generate new protocols/guidelines for healthcare professionals working in SMA.
REC name
London - Fulham Research Ethics Committee
REC reference
26/PR/0065
Date of REC Opinion
19 Mar 2026
REC opinion
Further Information Favourable Opinion