Dados do Trabalho

Título

A CASE REPORT OF A RESPONSE TO ONASEMNOGEN ABEPARVOVEQUE IN A 7-YEAR-OLD CHILD WITH SMA TYPE 2.

Apresentação do caso

Case report of a male patient, 8 years old, son of non-consanguineous parents, who presented delayed motor development. At 10 months, he underwent genetic testing for Spinal Muscular Atrophy (SMA) with absence of copies in exon 7 and 8 of the SMN1 gene and 3 copies of the SNM2 gene, being then classified as SMA type 2. He was using Nusinersine (he received 16 doses of medication), with a good response to treatment. In January 2022, at the age of 7 years, he received a dose of Onasemnogeno Abeparvoveque (adjusted to 21 kg, according to the European package insert), as instructed in the package insert, he used prednisolone (2mg∕kg∕day), started on the eve of the application and maintained for 4 weeks with slow drug taper to date. After 6 months of receiving gene therapy, he showed a gain of 5 points on the "Expanded Motor Functional Scale for AME Hammersmith (HFMSE)", he had 22 points in January 2022 and in July of the same year he increased his score to 27 points. In addition to improvement in this motor scale, reductions in foot and chest deformities were also noticed, as well as improved hand strength, fine motor coordination, ensuring more autonomy in his daily care, such as bathing and brushing his teeth. After the first month of treatment, during the corticosteroid reduction phase, he evolved with an increase in liver enzymes (AST and ALT), corrected with a pulse of Methylprednisole for 3 days. Even during treatment he remained asymptomatic. Now, he maintains a gradual reduction in corticosteroids.

Discussão

Although the child is above the age of recent studies on the medication, the patient had a good response to treatment, without severe adverse events. An important point to be evaluated in this case is that the child did not present motor involution when he received the gene therapy (unlike the cases shown in studies with children older than 2 years), in addition to the fact that this child has a complete multidisciplinary care network. Wouldn't it be necessary to evaluate the patient's clinical conditions to indicate the medication beyond the age group?

Comentários finais

Spinal Muscular Atrophy (SMA) is a progressive and degenerative disease, gene therapy becomes a viable treatment option for patients with the disease. More studies with older patients are needed to better assess the profile of treatment candidates. It would be possible to consider the clinical condition of these patients to indicate gene therapy, although they are outside the ideal age group.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

não há

Área

Doenças neuromusculares