Silvia Bonanno1, Riccardo Zanin2, Luca Bello3, Irene Tramacere4, Virginia Bozzoni3, Luca Caumo3, Manfredi Ferraro5, Sara Bortolani5, Gianni Sorarù3, Mauro Silvestrini6,7, Veria Vacchiano8,9, Mara Turri10, Raffaella Tanel11, Rocco Liguori8,9, Michela Coccia6, Renato Emilio Mantegazza1, Tiziana Mongini5, Elena Pegoraro3, Lorenzo Maggi12. 1. Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. 2. Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 3. Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy. 4. Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 5. Department of Neurosciences Rita Levi Montalcini, Neuromuscular Center, University of Torino, Turin, Italy. 6. Department of Neurological Sciences, Ospedali Riuniti di Ancona, Ancona, Italy. 7. Neurological Clinic, Marche Polytechnic University, Ancona, Italy. 8. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. 9. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. 10. Department of Neurology/Stroke Unit, San Maurizio Hospital, Bolzano, Italy. 11. Neurology Disease Unit, Osp. S. Chiara APSS, Trento, Italy. 12. Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. lorenzo.maggi@istituto-besta.it.
Abstract
OBJECTIVE: To retrospectively evaluate quality of life (QoL) in a large multicenter cohort of adult patients affected by spinal muscular atrophy (SMA) during nusinersen treatment. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
OBJECTIVE: To retrospectively evaluate quality of life (QoL) in a large multicenter cohort of adult patients affected by spinal muscular atrophy (SMA) during nusinersen treatment. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
Authors: Richard S Finkel; Eugenio Mercuri; Basil T Darras; Anne M Connolly; Nancy L Kuntz; Janbernd Kirschner; Claudia A Chiriboga; Kayoko Saito; Laurent Servais; Eduardo Tizzano; Haluk Topaloglu; Már Tulinius; Jacqueline Montes; Allan M Glanzman; Kathie Bishop; Z John Zhong; Sarah Gheuens; C Frank Bennett; Eugene Schneider; Wildon Farwell; Darryl C De Vivo Journal: N Engl J Med Date: 2017-11-02 Impact factor: 91.245
Authors: Giovanni Baranello; Basil T Darras; John W Day; Nicolas Deconinck; Andrea Klein; Riccardo Masson; Eugenio Mercuri; Kristy Rose; Muna El-Khairi; Marianne Gerber; Ksenija Gorni; Omar Khwaja; Heidemarie Kletzl; Renata S Scalco; Timothy Seabrook; Paulo Fontoura; Laurent Servais Journal: N Engl J Med Date: 2021-02-24 Impact factor: 91.245
Authors: S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani Journal: Cell Date: 1995-01-13 Impact factor: 41.582
Authors: Basil T Darras; Claudia A Chiriboga; Susan T Iannaccone; Kathryn J Swoboda; Jacqueline Montes; Laurence Mignon; Shuting Xia; C Frank Bennett; Kathie M Bishop; Jeremy M Shefner; Allison M Green; Peng Sun; Ishir Bhan; Sarah Gheuens; Eugene Schneider; Wildon Farwell; Darryl C De Vivo Journal: Neurology Date: 2019-04-24 Impact factor: 9.910