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• W4387302519 abstract "The objective is to evaluate outcome data of paediatric patients with SMA treated with nusinersen. Among 72 patients between 2017-2022, we evaluated 46 patients who at least completed the initial loading doses and first maintenance dose. Patients enrolled in clinical trials, early access program, and diagnosed through National Newborn Screening Program are excluded. Motor functions tests (CHOP-INTEND, HFMSE) at baseline and each dose after the loading doses were assessed. Spearman correlation test was used to evaluate the relationship between the motor functions and age of onset of treatment. 46 patients (19 girls, 27 boys) with SMA; SMA type 1 (n=18), type 2 (n= 15), type 3 (n= 13) were evaluated. At treatment initiation, median age of SMA type 1, type 2 and type 3 patients were 6.5 (1-123); 112 (50-178); 88 (31-190) months, respectively. Median follow-up duration was 37.7 (13-171) months for type 1, 134 (65-210) months for type 2, 73 (37-153) months for type 3. Median baseline CHOP-INTEND score was 23 (0-38) for type 1. Median HMFSE score was 4 (1-26) for type 2, 41 (17-62) for type 3. At last assessment, 2 patients walk independently, and 2 patients walk with support in SMA type 1 group. Three patients with type 3 lost ability of independent walking. At last assessment, median CHOP-INTEND score was 41 (3-64) for type 1, median HMFSE score was 8 (4-30) for type 2, and 48 (28-64) for type 3. Side-effects included proteinuria, thrombocytosis, intracranial hypotension in 10 patients and did not require cessation of treatment. There was a significant negative correlation between the motor functions of SMA type 1 patients whose age at onset of treatment was ≤18 months and >18 months (p=0.047, correlation coefficient=-0.379). A significant negative correlation was found between the age of onset of treatment and motor score in all SMA types (p<0.005, correlation coefficient=-0,529). At baseline, 8 patients (SMA type 1= 6; type 2= 2), and during follow-up 4 patients (SMA type 1= 2; type 2= 2) required ventilatory support. In SMA type 1, 2 patients required feeding with percutaneous gastrostomy and 1 patient with a nasogastric tube. Scoliosis developed in 3 patients with SMA type 1, 14 patients with SMA type 2 and 3 patients with SMA type 3 before treatment; and 8 patients with SMA type 1 and 3 patients with SMA type 3 under treatment. Scoliosis surgery was performed in 2 patients with SMA type 2. Six of the 18 patients with SMA type 1 had cognitive involvement and language delay, with autistic features accompanying 1 patient with type 1 and 1 patient with type 2 who also had epilepsy. In conclusion, this cohort represents a heterogeneous group of symptomatic paediatric SMA patients treated with nusinersen. Positive treatment effect was evident in all patients treated under the age of 18 months, irrespective of SMA type. This real-life data echoes that early initiation of treatment positively affects outcome, with gains in motor function and/or stabilization. Multidisciplinary care plays an ever-important role because of the mismatch in outcome parameters. The objective is to evaluate outcome data of paediatric patients with SMA treated with nusinersen. Among 72 patients between 2017-2022, we evaluated 46 patients who at least completed the initial loading doses and first maintenance dose. Patients enrolled in clinical trials, early access program, and diagnosed through National Newborn Screening Program are excluded. Motor functions tests (CHOP-INTEND, HFMSE) at baseline and each dose after the loading doses were assessed. Spearman correlation test was used to evaluate the relationship between the motor functions and age of onset of treatment. 46 patients (19 girls, 27 boys) with SMA; SMA type 1 (n=18), type 2 (n= 15), type 3 (n= 13) were evaluated. At treatment initiation, median age of SMA type 1, type 2 and type 3 patients were 6.5 (1-123); 112 (50-178); 88 (31-190) months, respectively. Median follow-up duration was 37.7 (13-171) months for type 1, 134 (65-210) months for type 2, 73 (37-153) months for type 3. Median baseline CHOP-INTEND score was 23 (0-38) for type 1. Median HMFSE score was 4 (1-26) for type 2, 41 (17-62) for type 3. At last assessment, 2 patients walk independently, and 2 patients walk with support in SMA type 1 group. Three patients with type 3 lost ability of independent walking. At last assessment, median CHOP-INTEND score was 41 (3-64) for type 1, median HMFSE score was 8 (4-30) for type 2, and 48 (28-64) for type 3. Side-effects included proteinuria, thrombocytosis, intracranial hypotension in 10 patients and did not require cessation of treatment. There was a significant negative correlation between the motor functions of SMA type 1 patients whose age at onset of treatment was ≤18 months and >18 months (p=0.047, correlation coefficient=-0.379). A significant negative correlation was found between the age of onset of treatment and motor score in all SMA types (p<0.005, correlation coefficient=-0,529). At baseline, 8 patients (SMA type 1= 6; type 2= 2), and during follow-up 4 patients (SMA type 1= 2; type 2= 2) required ventilatory support. In SMA type 1, 2 patients required feeding with percutaneous gastrostomy and 1 patient with a nasogastric tube. Scoliosis developed in 3 patients with SMA type 1, 14 patients with SMA type 2 and 3 patients with SMA type 3 before treatment; and 8 patients with SMA type 1 and 3 patients with SMA type 3 under treatment. Scoliosis surgery was performed in 2 patients with SMA type 2. Six of the 18 patients with SMA type 1 had cognitive involvement and language delay, with autistic features accompanying 1 patient with type 1 and 1 patient with type 2 who also had epilepsy. In conclusion, this cohort represents a heterogeneous group of symptomatic paediatric SMA patients treated with nusinersen. Positive treatment effect was evident in all patients treated under the age of 18 months, irrespective of SMA type. This real-life data echoes that early initiation of treatment positively affects outcome, with gains in motor function and/or stabilization. Multidisciplinary care plays an ever-important role because of the mismatch in outcome parameters." @default.
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• W4387302519 date "2023-10-01" @default.
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• W4387302519 title "P06 Real-life outcome data of paediatric patients with spinal muscular atrophy treated with nusinersen: Experience from a tertiary referral center in Turkey" @default.
• W4387302519 doi "https://doi.org/10.1016/j.nmd.2023.07.383" @default.
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