Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
caregivers; ethics; palliative care; Sma; standard of care
Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age in most cases. Caring for these short-lived and severely impaired infants requires palliative management. New drugs (nusinersen) have recently been developed that may modify SMA-1 natural history and thus raise ethical concerns about the appropriate level of care for patients. The national Hospital Clinical Research Program (PHRC) called "Assessment of clinical practices of palliative care in children with Spinal Muscular Atrophy Type 1 (SMA-1)" was a multicenter prospective study conducted in France between 2012 and 2016 to report palliative practices in SMA-1 in real life through prospective caregivers' reports about their infants' management. Thirty-nine patients were included in the prospective PHRC (17 centers). We also studied retrospective data regarding management of 43 other SMA-1 patients (18 centers) over the same period, including seven treated with nusinersen, in comparison with historical data from 222 patients previously published over two periods of 10 years (1989-2009). In the latest period studied, median age at diagnosis was 3 months [0.6-10.4]. Seventy-seven patients died at a median 6 months of age[1-27]: 32% at home and 8% in an intensive care unit. Eighty-five percent of patients received enteral nutrition, some through a gastrostomy (6%). Sixteen percent had a non-invasive ventilation (NIV). Seventy-seven percent received sedative treatment at the time of death. Over time, palliative management occurred more frequently at home with increased levels of technical supportive care (enteral nutrition, oxygenotherapy, and analgesic and sedative treatments). No statistical difference was found between the prospective and retrospective patients for the last period. However, significant differences were found between patients treated with nusinersen vs. those untreated. Our data confirm that palliative care is essential in management of SMA-1 patients and that parents are extensively involved in everyday patient care. Our data suggest that nusinersen treatment was accompanied by significantly more invasive supportive care, indicating that a re-examination of standard clinical practices should explicitly consider what treatment pathways are in infants' and caregivers' best interest. This study was registered on clinicaltrials.gov under the reference NCT01862042 (https://clinicaltrials.gov/ct2/show/study/NCT01862042?cond=SMA1&rank=8).
Hully M; Barnerias C; Chabalier D; Le Guen S; Germa V; Deladriere E; Vanhulle C; Cuisset J M; Chabrol B; Cances C; Vuillerot C; Espil C; Mayer M; Nougues M C; Sabouraud P; Lefranc J; Laugel V; Rivier F; Louvier U W; Durigneux J; Napuri S; Sarret C; Renouil M; Masurel A; Viallard M L; Desguerre I
Frontiers in Pediatrics
2020
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.3389/fped.2020.00004" target="_blank" rel="noreferrer noopener">10.3389/fped.2020.00004</a>
Supportive care in children with spinal muscular atrophy type 1: Results from a french multicentric study
death; child; female; human; major clinical study; male; palliative therapy; controlled study; conference abstract; prospective study; caregiver; clinical research; drug therapy; France; gastrostomy; history; intensive care unit; new drug; noninvasive ventilation; nusinersen; nutrition supplement; physician; sedation; sedative agent; standardization; Werdnig Hoffmann disease
Introduction: This National Hospital Clinical Research Program (PHRC) was conducted in France between 2012 and 2016 to depict palliative practices in spinal muscular atrophy type 1 (SMA-1). New drugs (Nusinersen) have been developed and may modify its natural history. We thus present data about supportive care for patients included in that PHRC, comparing them to patients not included concomitantly. Patients and Methods: Supportive care data (enteral nutrition, non-invasive ventilation [NIV], sedation), age and place of death were collected prospectively from a specific health-book and a survey about conditions of death for the patients included in the PHRC and retrospectively by questioning physicians of the French Pediatric Neuromuscular Network for the other patients, some of them receiving Nusinersen. Result(s): In 18 centres, 38 patients were included in the PHRC, 43 were not; including 7 receiving Nusinersen. Mean age at diagnosis was 3.9 months (SD 2.4). 77 patients died at 7.5 months (SD 4,96), 32% at home, 8% in an intensive care unit. 85% patients received enteral nutrition, some through a gastrostomy (8%). 16% had a NIV. 70% received sedative treatment. No statistical difference was found between the two groups. However only all 3 patients (4%) receiving Nusinersen had both a gastrostomy and a NIV, without any sedation. Conclusion(s): Our data confirm that palliative care is essential in the management of ASI-1 patients, that is so far still a fatal disorder. Our data suggest that Nusinersen treatment was accompanied by more invasive supportive care, claiming for a standardization of practices in the children and caregivers' best-interest.
Hully M; Barnerias C; Chabrol B; Vuillerot C; Sabouraud P; Cuisset J M; Cances C; Ropars J; Rivier F; Isapoff A; Desguerre I
Developmental Medicine and Child Neurology
2019
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/dmcn.14244" target="_blank" rel="noreferrer noopener">10.1111/dmcn.14244</a>