Dados do Trabalho

Título

GENE THERAPY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY. WHAT COULD BE MISSING?

Introdução

Introduction: The onasemnogene aberparvovec-xioi is a replacement therapy (GT) of the SMN1 gene, approved in 2019 by the FDA, is administered in a single intravenous dose and have an approximate cost of 2.1 million dollars. It is indicated for all types of spinal muscular atrophy (SMA) in patients under the age of 2 years.

Objetivo

The objective of this study is to present a series of patients who received state-funded GT, emphasizing the social aspects.

Método

Methodology: This study is a branch of the Brazilian observational study in children with SMA5Q (Sobre5), approved under CAAE 58482122.9.2002.5558. Patients diagnosed with SMA from the Federal District and Tocantins who received gene therapy were selected. The following aspects were analyzed: gender, age at infusion; period between the request process and the infusion, type of SMA, use of medications such as Nursinesena and Risdiplam, history of SMA in the family, data related to the maintenance of rehabilitation and general socioeconomic aspects.

Resultados

Results: From 12 patients identified, 8 were girls, 9 lived in Federal District and 3 were from Tocantins. One patient had SMA type 2 and the others had SMA type 1. The mean age of infusion in 11 children was 1 year and 7 months (minimum of 1 year and 1 month and maximum of 3 years and 2 months). The mean time between the judicialization of the request and the infusion was 10 months in 6 patients. Eleven patients received Nursinesena before GT and one patient also received Risdiplam after GT. One patient had a history of sibling with SMA type 1. 4 of 10 patients doesn’t have regular multidisciplinary care. Of 4 parents, 3 had completed university. Of 7 parents, 6 were married. Two mothers became pregnant even after having a child diagnosed with SMA. A child started to live in a shelter.

Conclusão

Discussion and Conclusions: Despite the very high cost, with a significant impact on the health system, almost all patients had also received another therapy with a long-term cost close to that of GT. The irregularity of multidisciplinary care in a significant portion of these patients, the occurrence of a new pregnancy after a child with SMA who underwent GT and the identification of a child who started to live in a shelter, even after receiving GT, indicate that there is a priority focus on the financing of the medication, relegating to the background, no less important aspects such as genetic counseling and the guarantee of long-term State assistance.

Referências

Samiah A. Al-Zaidy, Jerry R. Mendell, From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1, Pediatric Neurology, Volume 100, 2019, Pages 3-11, ISSN 0887-8994, https://doi.org/10.1016/j.pediatrneurol.2019.06.007.
Reed UC, Zanoteli E. Therapeutic advances in 5q-linked spinal muscular atropy. Arq Neuro-psiquatr. 2018. https://doi.org/10.1590/0004-282X20180011
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17. PMID: 33743238.
Nunes, JCMG, et al. O uso de fármacos no tratamento de atrofia muscular espinhal: Uma revisão bibliográfica. Rev Educ Meio Amb Saude. 2016, jul; 1-10.

Palavras Chave

Spinal muscular atrophy; Treatment; SMN1