Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children

Background: SMA1 natural history is characterized by early development of chronic respiratory failure. Respiratory interventions in type 1 SMA infants are subject to great practice variability. Nusinersen, has been recently approved in Argentina. The advent of novel treatments has highlighted the need for natural history studies reporting disease progression in type 1 SMA. Objective: To analyze the progression, respiratory interventions and survival based on the type of respiratory support in type 1SMA patients, in a third level pediatric hospital in Argentina. Methods: Cohort of SMA1 patients followed at the Interdisciplinary Program for the Study and Care of Neuromuscular Patients (IPNM). Patient survival was analyzed by using the Kaplan-Meier method. Log-rank test was performed to compare the survival curve for three respiratory intervention groups. Results: 59 patients. Mean age of symptom onset was 2.19 (±1.4) months, age at diagnosis was 3.9 (±2.1) months. Patients developed respiratory failure at 5.82 months (±2.32) and 13.8 months (±5.6) in Type 1B and Type 1C, respectively (p < 0.001) 53 p were SMA1B. Three copies were found in 1/6 SMA1C. Respiratory interventions: SRC 23 p (56.1%); SRC + NIV 8 p (19.5%); SRC + IV 10 p (24.4%). 8 patients were already on invasive ventilation when included in the IPNM. Patients with invasive ventilation showed longer survival. Conclusions: This series provides valuable information on respiratory intervention requirements and life expectancy in children with SMA1 before the implementation of novel treatments that increase the expression of the SMA protein.

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Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

Intensive Care Medicine ◽

10.1007/s00134-006-0346-8 ◽

2006 ◽

Vol 32 (11) ◽

pp. 1851-1855 ◽

Cited By ~ 24

Author(s):

Alberto Giannini ◽

Anna Maria Pinto ◽

Giordano Rossetti ◽

Edi Prandi ◽

Danilo Tiziano ◽

...

Keyword(s):

Respiratory Failure ◽

Respiratory Distress ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy

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P.062 Burden of illness of spinal muscular atrophy (SMA): an update

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2019.162 ◽

2019 ◽

Vol 46 (s1) ◽

pp. S30-S31

Author(s):

M Droege ◽

O Dabbous ◽

R Arjunji ◽

M Gauthier-Loiselle ◽

M Cloutier ◽

...

Keyword(s):

Respiratory Failure ◽

Resource Use ◽

Treatment Initiation ◽

Healthcare Resource ◽

Muscular Atrophy ◽

Burden Of Illness ◽

Claims Analysis ◽

Medical Visits

Background: In this retrospective claims analysis, real-world healthcare resource use (HRU) and costs among SMA type 1 (SMA1) patients were assessed. Methods: SMA1 patients were identified from Symphony Health’s Integrated Dataverse® (09/01/2016–08/31/2018). The study period spanned from the index date (date of first SMA1 diagnosis after nusinersen approval [12/23/2016]) until death/end of available data. HRU and costs per-patient-per-year (PPPY; 2018USD) were described during the study period for all patients and after treatment initiation for nusinersen-treated patients. Results: A total of 349 SMA1 patients (median age=1 year; 55.6% female) with median follow-up of 7.9 months were included. The proportion of patients receiving mechanical ventilation, nutritional support, and physical therapy/rehabilitation was 46.4%, 46.1%, and 22.6%. Patients had, on average, 59.4 days with medical visits/year (14.1 inpatient, 13.4 respiratory failure-related). The 45 nusinersen-treated patients had, on average, 56.6 days with medical visits/year (4.6 inpatient, 11.4 respiratory failure-related). Excluding nusinersen-related costs, mean healthcare costs PPPY were $137,627 (median: $43,167) for all patients and $92,618 ($29,425) for nusinersen-treated patients. Mean nusinersen-related costs were $191,909 ($144,487) per month for the first 3 months post-initiation and $36,882 ($16,132) per month thereafter. Conclusions: HRU and costs associated with SMA1 are substantial, even among patients treated with nusinersen.

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Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen

Journal of Neuromuscular Diseases ◽

10.3233/jnd-200533 ◽

2021 ◽

pp. 1-8

Author(s):

Rodrigo de Holanda Mendonça ◽

Graziela Jorge Polido ◽

Ciro Matsui ◽

Davi Jorge Fontoura Solla ◽

Umbertina Conti Reed ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Disease Duration ◽

Muscular Atrophy ◽

Ventilatory Support ◽

Invasive Ventilation ◽

Spinal Muscular Atrophy Type ◽

Progressive Muscle Weakness ◽

Predictors Of Response ◽

The Mean

Background Spinal muscular atrophy type 1 (SMA1) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival. Objective: To report the evaluation of the nusinersen, an antisense oligonucleotide, on the motor function of SMA1. Methods This was a longitudinal and observational study to assess the outcomes of nusinersen therapy in SMA1 patients using the HINE-2 and CHOP-INTEND scales. Results Twenty-one SMA1 patients (52.4% males) were included; the mean age at first symptoms was 2.7 months (SD =±1.5), and the mean disease duration at first dose was 34.1 (SD =±36.0) months. During posttreatment, the mean gain on the CHOP-INTEND was 4.9, 5.9, 6.6, and 14 points after 6, 12, 18, and 24 months, respectively. Starting medication with a disease duration of less than 12 months and/or without invasive ventilation were predictors of response on CHOP-INTEND. Of the patients, 28.6% acquired a motor milestone or gained at least three points on the HINE-2. The daily time for ventilatory support was reduced after treatment in most of the patients with noninvasive ventilation at baseline. No change in the daytime use of ventilation was observed in most of the patients using invasive ventilation at baseline. Conclusions Nusinersen produces improvements in motor and respiratory functions, even in long-term SMA1 patients. However, patients under invasive ventilation at the beginning of the treatment experience little benefit.

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