Lived experiences of families of children with SMA Type 1
Research type
Research Study
Full title
Lived Experiences of Families of Children with Spinal Muscular Atrophy Type 1: A Qualitative Investigation into Feeding and Communication
IRAS ID
358595
Contact name
Anne BREAKS
Contact email
Sponsor organisation
Guy's & St Thomas' NHS Foundation Trust
Clinicaltrials.gov Identifier
1642, GSTT R&D finance
Duration of Study in the UK
0 years, 7 months, 29 days
Research summary
Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function—affecting swallowing, feeding, speech, and airway protection. Historically, bulbar decline contributed significantly to early morbidity and mortality.
The advent of disease-modifying therapies (DMTs) such as nusinersen, zolgensma and risdiplam (also known as Spinraza, Zolgensma, and Evrysdi) sinersinhas altered the clinical course of SMA Type 1, with emerging evidence of motor improvement and increased survival. However, the impact of these therapies on bulbar function remains poorly understood, and standardised tools for its assessment are lacking.
Qualitative research which uses interviews with parents and carers offers an opportunity to capture nuanced caregiver perspectives, identify meaningful functional outcomes, and explore daily lived experiences in a way quantitative tools currently cannot.
REC name
Wales REC 3
REC reference
26/WA/0102
Date of REC Opinion
1 Apr 2026
REC opinion
Favourable Opinion