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Título

New treatments, combination therapy and ventilatory changes: report of two cases of spinal muscular atrophy under treatment

RESUMO

Introduction: Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness and respiratory involvement. Recently, disease-modifying drugs in association with multidisciplinary management have increased survival. A small group of patients have received therapies in combination, such as the use of gene therapy (GT) followed by nusinersen. However, the effects of this approach in terms of efficacy and safety are not well established. Objective: The aim of this study is to present the ventilatory changes in two patients with SMA type 1. The respiratory functional measures collected were forced vital capacity (FVC) and thoracic development was measured by chest cirtometry (CC). Case 1 – Male patient, SMA type 1, who started nusinersen at 5 months and received GT at 1 year and 7 months old. He continued using oligonucleotide antisense after GT. The patient underwent 18 assessments at 30-day intervals. In the first evaluation the child was 1 year and 7 months old, he presented FVC of 300 ml and CC of 48 cm of axillary line and 50 cm of xiphoid process. After 6 months, FVC was 240 ml and CC was 49cm of axillary line and 50cm of xiphoid process. After 12 months, FVC was 250 ml and CC was 51 cm of axillary line and 52 cm of xiphoid process, and after 18 months, FVC was 290ml and CC was 55 cm of axillary line and 56 cm of xiphoid process. Case 2 – Male patient, SMA type 1 who started nusinersen at 4 months and received GT at 1 year 4 months, then nusinersena was stopped. The patient underwent 10 assessments at 30-day intervals. In the first evaluation the child was 1 year and 7 months old, he presented FVC of 150ml and CC of 44cm of axillary line and 48 cm of xiphoid process. After 3 months, FVC was 200 ml and CC was 48cm of axillary line and 50 cm of xiphoid process. After 06 months, FVC was 220ml and CC was 49 cm of axillary line and 51 cm of xiphoid process, and after 09 months, FVC was 220 ml and CC was 46 cm of axillary line and 50 cm of xiphoid process. Conclusion: CC increased throughout the evaluations, demonstrating satisfactory growth of the thoracic cage. During the evaluation period, there were no serious respiratory complications. Ventilatory support has been maintained only at night. The two cases maintained ventilatory management through air stacking techniques, and mechanical assistance for cough. Thus, specific therapies for SMA, either alone or in combination, have been shown to be effective in improving respiratory function in SMA.