249P Clinical characteristics of the spinal muscular atrophy patients identified in the Brazilian public health system

Spinal muscular atrophy (SMA) is a rare disease characterized by progressive loss of motor neurons. The most common form of SMA (5q-SMA), classified into subtypes, according to the age of onset and the maximum motor function achieved. Nusinersen is a disease modifying treatment (DMT), incorporated f...

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Bibliographic Details
Published in:	Neuromuscular disorders : NMD Vol. 43; p. 104441
Main Authors:	Batista, E.C., Zanoteli, E., Ortega, A.B., Junior, M.C.F., Saute, J.A.M., Oliveira, A.S.B., Giannetti, J.G., Pessoa, A.L.S., Prufer, A., Boy, R., Junior, F.G.B., de Albuquerque, C.S.N., Moia, D.D.F., Monfardini, F., Santos, G.P., Soares, R.V.P., Silva, G.S., Rizzo, L.V., Berwanger, O., Fonseca, H.A.R.
Format:	Journal Article
Language:	English
Published:	Elsevier B.V 01-10-2024
Online Access:	Get full text
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Summary:	Spinal muscular atrophy (SMA) is a rare disease characterized by progressive loss of motor neurons. The most common form of SMA (5q-SMA), classified into subtypes, according to the age of onset and the maximum motor function achieved. Nusinersen is a disease modifying treatment (DMT), incorporated free of charge into the Brazilian Unified National Health System (SUS) for the treatment of subtype 1 of the disease, in 2019. In 2021, the treatment was expanded to 5q-SMA subtype 2. This is a cross-sectional observational study aimed to characterize the clinical characteristics and access to DMT from patients with 5q-SMA types 2 and 3 in references centers from the SUS. Patients with 5q-SMA types 2 and 3, both sexes from 9 national reference centers were included between 2020 to 2021, independent of DMT treatment. A total of 155 patients were included, 76 of subtype 2 and 79 of subtype 3. For subtype 2, 45% sit stable, 11% stand with support, 78% have scoliosis and 39 have access to Nusinersen and 37 without access the DMT. As for subtype 3, 43% sit stably, 13% stand with support, 34% walk independently, 66% have scoliosis and 21 have access to Nusinersen and 58 without access to DMT. In the Brazilian Public Health System, the SMA patients has poorly access to DMT for 5q-SMA subtype treatment with relevant clinical impacts in long-term.
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2024.07.466