Caterina Agosto1, Eleonora Salamon2, Antuan Divisic2, Francesca Benedetti3, Luca Giacomelli4, Aashni Shah4, Giorgio Perilongo5, Franca Benini2. 1. Paediatric Palliative Care, Pain Service, Department of Women's and Children's Health, University of Padova, Padua, Italy. caterina.agosto@aopd.veneto.it. 2. Paediatric Palliative Care, Pain Service, Department of Women's and Children's Health, University of Padova, Padua, Italy. 3. Pediatric Residency Program, University of Padova, Padua, Italy. 4. , Polistudium srl, Milan, Italy. 5. Paediatric Neurology, Department of Women's and Children's Health, University of Padova, Padua, Italy.
Abstract
BACKGROUND: We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al. in their analysis published in the Orphanet Journal of Rare Diseases. METHODS: We analyzed records of all children with a genetically diagnosed SMA and clinically confirmed diagnosis of SMA Type 1 or 2 to whom nusinersen was offered. Follow-up lasted 30 months. RESULTS: Among the 17 children with SMA type 1, 6 interrupted treatment with nusinersen due to adverse events or lack of efficacy. Of the remaining 11 patients, 9 are responding to therapy, though multidisciplinary complex care is still required. All those children started nusinersen at a very early age. Eighteen patients with SMA type 2 received nusinersen; five required treatment interruption. The other 13 patients are still on nusinersen therapy, and 6 are responders. Among the seven non-responders, only two met the inclusion criteria of the pivotal trial. CONCLUSIONS: Our analysis further supports the findings reported in the study by Audic et al. We believe that a wider use of nusinersen in clinical practice would require a comprehensive assessment of its actual benefits weighed against the discomfort caused to patients, as well as the identification of the patients who may obtain the best benefits from this treatment.
BACKGROUND: We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al. in their analysis published in the Orphanet Journal of Rare Diseases. METHODS: We analyzed records of all children with a genetically diagnosed SMA and clinically confirmed diagnosis of SMA Type 1 or 2 to whom nusinersen was offered. Follow-up lasted 30 months. RESULTS: Among the 17 children with SMA type 1, 6 interrupted treatment with nusinersen due to adverse events or lack of efficacy. Of the remaining 11 patients, 9 are responding to therapy, though multidisciplinary complex care is still required. All those children started nusinersen at a very early age. Eighteen patients with SMA type 2 received nusinersen; five required treatment interruption. The other 13 patients are still on nusinersen therapy, and 6 are responders. Among the seven non-responders, only two met the inclusion criteria of the pivotal trial. CONCLUSIONS: Our analysis further supports the findings reported in the study by Audic et al. We believe that a wider use of nusinersen in clinical practice would require a comprehensive assessment of its actual benefits weighed against the discomfort caused to patients, as well as the identification of the patients who may obtain the best benefits from this treatment.
Authors: Eugenio Mercuri; Basil T Darras; Claudia A Chiriboga; John W Day; Craig Campbell; Anne M Connolly; Susan T Iannaccone; Janbernd Kirschner; Nancy L Kuntz; Kayoko Saito; Perry B Shieh; Már Tulinius; Elena S Mazzone; Jacqueline Montes; Kathie M Bishop; Qingqing Yang; Richard Foster; Sarah Gheuens; C Frank Bennett; Wildon Farwell; Eugene Schneider; Darryl C De Vivo; Richard S Finkel Journal: N Engl J Med Date: 2018-02-15 Impact factor: 91.245
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: Claudia A Chiriboga; Kathryn J Swoboda; Basil T Darras; Susan T Iannaccone; Jacqueline Montes; Darryl C De Vivo; Daniel A Norris; C Frank Bennett; Kathie M Bishop Journal: Neurology Date: 2016-02-10 Impact factor: 9.910