Dados do Trabalho

Título

INTRATHECAL ADMINISTRATION OF NUSINERSEN IN CHILDREN AND ADOLESCENT SMA TYPE 1 AND 2

Introdução

Spinal muscular atrophy (SMA) is an autosomal-recessive disorder resulting in progressive muscle weakness. In August 2017, the Agência Nacional de Vigilância Sanitária (ANVISA) approved the first treatment for SMA, a drug named nusinersen that is administered intrathecally. However many patients with SMA have neuromuscular scoliosis or spinal instrumentation resulting in challenging intrathecal access. Many centers use radiological methods to guide lumbar puncture, such as ultrasound, videofluoroscopy or tomography, but these methods are often available only in referral centers.

Objetivo

The authors describe their experience as a reference center in SMA treatment with intrathecal applications of nusinersen.

Métodos

Electronic medical record review.

Resultados

A total of 107 lumbar punctures were performed for application of nusinersen. In 12 patients with SMA type 1, 71 punctures were performed and 36 punctures in 4 patients with SMA type 2. The age of the patients ranged from 1 month to 15 years. None of the patients had previous spine fusion surgeries. Punctures were successfully performed in all patients without the need for a radiological method. Complications occurred in 6 procedures (5,6%) and the adverse events were attributed to lumbar puncture. These events were headache( n=6), nausea (n=2), vomit (n=1), back pain (n=1). Performing the analysis only with patients able to verbalize those symptoms (SMA type 1C and type 2), in a total of 46 procedures, adverse effects occurred in 13%.

Conclusões

The authors conclude that lumbar punctures for the application of nusinersen are feasible, safe and can be successfully performed without the aid of a radiological method, even in the presence of scoliosis.

Palavras chave

nusinersen, intrathecal Injections, spinal muscular atrophy

Referências (se houver)

1. Haché M, Swoboda KJ, Sethna N, et al. Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience. J Child Neurol 2016;31(7):899-906.
2. Wurster CD, Winter B, Wollinsky K, et al. Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. J Neurol 2019;266:183-194.
3. Mousa MA, Aria DJ, Schaefer CM, et al. Nusinersen Injections in adults and children with muscular atrophy: a single center experience. Diagn Interv Radiol 2020;26(6):596-602.

Fonte de Fomento (se houver)

Não

Declaração de conflito de interesses de TODOS os autores

Michele Becker: recebo apoio Biogen, Roche, Novartis e PTC para eventos, sou palestrante da Biogen, Roche, PTC. Participo estudo Devote e Onward. Demais autores sem conflito de interesse.

Área

Doenças neuromusculares