Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
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 Rar...
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doaj-9967417211454b4497ece127bb57bdff2021-02-14T12:09:37ZengBMCOrphanet Journal of Rare Diseases1750-11722021-02-011611410.1186/s13023-020-01593-4Do we always need to treat patients with spinal muscular atrophy? A personal view and experienceCaterina Agosto0Eleonora Salamon1Antuan Divisic2Francesca Benedetti3Luca GiacomelliAashni ShahGiorgio Perilongo4Franca Benini5Paediatric Palliative Care, Pain Service, Department of Women’s and Children’s Health, University of PadovaPaediatric Palliative Care, Pain Service, Department of Women’s and Children’s Health, University of PadovaPaediatric Palliative Care, Pain Service, Department of Women’s and Children’s Health, University of PadovaPediatric Residency Program, University of PadovaPaediatric Neurology, Department of Women’s and Children’s Health, University of PadovaPaediatric Palliative Care, Pain Service, Department of Women’s and Children’s Health, University of PadovaAbstract 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.https://doi.org/10.1186/s13023-020-01593-4Spinal muscular atrophyEthicsPalliative careTreatmentNusinersen |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Caterina Agosto Eleonora Salamon Antuan Divisic Francesca Benedetti Luca Giacomelli Aashni Shah Giorgio Perilongo Franca Benini |
spellingShingle |
Caterina Agosto Eleonora Salamon Antuan Divisic Francesca Benedetti Luca Giacomelli Aashni Shah Giorgio Perilongo Franca Benini Do we always need to treat patients with spinal muscular atrophy? A personal view and experience Orphanet Journal of Rare Diseases Spinal muscular atrophy Ethics Palliative care Treatment Nusinersen |
author_facet |
Caterina Agosto Eleonora Salamon Antuan Divisic Francesca Benedetti Luca Giacomelli Aashni Shah Giorgio Perilongo Franca Benini |
author_sort |
Caterina Agosto |
title |
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience |
title_short |
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience |
title_full |
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience |
title_fullStr |
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience |
title_full_unstemmed |
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience |
title_sort |
do we always need to treat patients with spinal muscular atrophy? a personal view and experience |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2021-02-01 |
description |
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. |
topic |
Spinal muscular atrophy Ethics Palliative care Treatment Nusinersen |
url |
https://doi.org/10.1186/s13023-020-01593-4 |
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