To retrospectively evaluate quality of life (QoL) in a large multicenter cohort of adult patients affected by spinal muscular atrophy (SMA) during nusinersen treatment.
We included adult (≥ 18 years) patients clinically and genetically defined as SMA2, SMA3 and SMA4, who started nusinersen treatment in adulthood. QoL was rated by the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Concurrent motor function evaluation included the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), the 6 min walking test (6MWT).
189 completed questionnaires were collected during a 14 months’ treatment period. 78 patients were included (7 SMA2 and 69 SMA3 and 2 SMA4) with mean disease duration at first nusinersen administration of 33.2 years (± 12.5 years). All the scores for each INQoL domain (weakness, fatigue, activities, independence, social relationship, emotions, body images) and the derived QoL total score, significantly improved during the observation period, except the muscle locking and pain items. Exploratory analyses suggested that emotions and social relationships were more relevant issues for females compared to males. Social relationships were affected also by a longer disease duration (> 30 years). In SMA3 non-walker patients, activities ameliorate better compared to walkers. The HFMSE and RULM significantly improved from baseline; however, no associations with QoL total score and weakness, activities or independence were demonstrated.
In our cohort, adult SMA patients showed a global improvement at the INQoL assessment over 14 months of nusinersen treatment. QoL assessment is relevant to SMA multidisciplinary evaluation.
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Conflicts of interest
Dr. Bonanno received honoraria for advisory board activities, and compensation for travel and congress participation from Sanofi Genzyme, Biogen and Roche. Dr. Zanin has received funds for travel and congress participation from Biogen. Dr. Tramacere reports no disclosures. Dr. Bello reports speaker honoraria from PTC Therapeutics, participation in advisory boards for PTC Therapeutics and Sarepta Therapeutics, and participation in research sponsored by Santhera Pharmaceuticals. Dr. Bozzoni compensation for congress participations from Biogen and Sanofi Genzyme. Dr. Caumo received compensation for congress participations from Biogen. Dr. Soraru reports no disclosures. Dr. Ferraro reports no disclosures. Dr. Bortolani has received travel grants from Biogen. Dr. Mongini has received compensation for Scientific Board participations from Sanofi Genzyme; for congress participation from Biogen. Prof. Silvestrini has received speaker’s honoraria from ITALFARMACO, PIAM, Boheringer and Novartis Pharmaceuticals. Dr. Coccia has received honoraria for advisory board activities and speaking compensation for congress participations from Biogen and Roche, outside the submitted work. Dr. Vacchiano reports no disclosures. Dr. Liguori has received: Lecture fees from LT3 s.r.l., NICO s.r.l., SUMMEET s.r.l. and GALEN SYMPOSION s.r.o.; fees for consultancy (Advisory Board) from LT3 s.r.l. and PREX s.r.l.; fees for scientific meeting organization from I&C s.r.l.; Chair meeting fees from PLANNING CONGRESSI s.r.l. Dr. Turri reports no disclosures. Dr. Tanel has received compensation for congress participations from Sanofi Genzyme, Biogen and Roche. Dr. Mantegazza received compensation for participating on advisory boards in relation to MG clinical trial design, congress participations and research support in the last 5 years from: Catalyst Pharmaceuticals, Alexion Pharmaceuticals, ARGENX Pharma, Biomarin. Prof. Pegoraro reports personal fees from Sarepta, grants and non-financial support from Santhera, personal fees and non-financial support from PTC Pharmaceuticals, non-financial support from Genzyme, personal fees from Roche, outside the submitted work. Dr. Maggi has received honoraria for speaking and compensation for congress participations from Sanofi Genzyme, Roche and Biogen, outside the submitted work.
The study involved seven Italian secondary- or tertiary-care centers for SMA and was approved by Ethics Committees at each center (ID: SMADU; approved by the Ethics Committee of Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, the coordinator center, on 10 July 2019).
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Supplementary file1 Figure S1. Correlation analyses between motor scores and specific items of the Individualized Neuromuscular Quality of Life (INQoL) scale. No meaningful associations between the Hammersmith Functional Motor Scale Expanded (HFMSE), or the Revised Upper Limb Module (RULM) total scores, and the QoL total score at baseline (T0), and after 10 months of treatment with nusinersen, were found. Spearman correlation coefficients (ρs) are reported. A ρs of +1 indicates a perfect positive correlation, a ρs of zero indicates no correlation, and a ρs of -1 indicates a perfect negative correlation. (TIF 94 KB)
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Bonanno, S., Zanin, R., Bello, L. et al. Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen. J Neurol 269, 3264–3275 (2022). https://doi.org/10.1007/s00415-021-10954-3
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