152P Perceived effects of treatments by SMA adult patients: a French qualitative study

• Published in: Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.587
• Main Authors: Laforêt, P., Montagu, G., Boyer, F., Gargiulo, M., Pouplin, S., Barrière, A., Berling, E., Bonnyaud, C., Cintas, P., Hogrel, J., Goff, L. Le, Marchadier, B., Sékou, G. N'Dah, Orlikowski, D., Prigent, H., Ropars, J., Salort-Campana, E., Stojkovic, T., Attarian, S.
• Format: Article
• Language: English
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2024.07.596

This work aims to describe the improvements experienced by spinal muscular atrophy (SMA) adult patients with treatments using qualitative methods. While therapeutic treatments of SMA have rapidly developed, difficulties arise to define the specificity of the drugs’ effects compared with routine management due to the lack of clinical trials in adults. We performed a secondary analysis of a qualitative study directed by a scientific committee of SMA specialists, carried out in 8 specialized centers and involving 18 adult patients and 31 HCPs interviewed by a sociologist. A thematic analysis of the transcriptions of patients’ interviews was performed focused on the perceived effects of treatments. 18 patient interview transcriptions were reviewed. 13 patients report having the experience of a treatment: 11 ongoing, 2 discontinued. According to their SMA type and the severity of their disabilities, they report different kinds of improvements of the treatment described into 3 categories according to the International Classification of Functioning, Disability and Health (ICF): improvement of strength and endurance (body functions and structures), of function (activities) and of fatigue (social participation). Patients with severe disabilities (non-ambulant with severe limitations of distal function of superior limbs, swallowing impairment and/or speech difficulties) report improvement of their speech in volume and endurance as of the strength and endurance of their fingers which improve their manipulation of electric wheelchair, computer and time of social participation. On the other hand, ambulant patients report improvement of their walking endurance and less fatigability in their daily activities. SMA adult patients report improvements that are not measured with existing assessment tools due to their lack of sensitivity. This work highlights the need for more sensitive and reliable assessments and provides insights for their development.