Supportive care in children with spinal muscular atrophy type 1: Results from a french multicentric study

Supportive care in children with spinal muscular atrophy type 1: Results from a french multicentric study

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

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.

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