SMA HRQoL Cross-Sectional Study
Research type
Research Study
Full title
A cross-sectional health-related quality of life (HRQoL) study in paediatric and adults patients with SMA and their caregivers, in the United Kingdom.
IRAS ID
326949
Contact name
Sophie Guest
Contact email
Sponsor organisation
Roche Products Limited
Duration of Study in the UK
0 years, 2 months, 20 days
Research summary
Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease characterised by progressive motor issues and muscular weakness. SMA is caused by a loss of function of the SMN1 gene. This gene encodes Survival of Motor Neuron protein, which is essential for the function of motor neurons responsible for walking, arm movement, head and neck movement, swallowing and breathing. Individuals with SMA experience gradually worsening physical disability.
Risdiplam is an orally administered treatment for SMA, indicated for the treatment of 5q SMA in patients ≥2 months of age, with a clinical diagnosis of SMA type 1, type 2 or type 3 or with 1–4 SMN2 copies. Risdiplam is currently available under the conditions of an NHS England Managed Access Agreement. A previous Single Technology Appraisal to NICE evaluating risdiplam for the treatment of SMA, used utility data collected using the EQ-5D-5L measure. NICE raised concerns regarding the patient utility data and the lack of caregiver utility data available in SMA. A review of the EQ-5D utility data obtained from risdiplam clinical trials demonstrate that the tool is inappropriate for use in SMA, due to its insensitivity to changes in patient health states.
The purpose of this study is to generate utility data to quantify health-related quality of life (HRQoL) associated with health states in people with SMA and their caregivers. This will be achieved with a cross-sectional survey, developed using existing HRQoL tools, which have been determined through research and expert opinion as valid for use in SMA. The study will include paediatric (aged 0–18) and adult patients (aged >19) with SMA, and their caregivers living in the UK. The study is sponsored by Roche Products Limited (a pharmaceutical company), advertised by SMA UK (a patient advocacy group) and run by Costello Medical (an independent, UK-based research consultancy).
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
23/NE/0163
Date of REC Opinion
9 Oct 2023
REC opinion
Further Information Favourable Opinion