Nutritional Management Evolution in Children with Spinal Muscular Atrophy Type 1 Undergoing New Therapies: A Retrospective Study from a Reference Center
Raya Muñoz J*, Cuevas Moreno A, Cabello Ruiz V, Freixas Bermejo M, Álvarez Beltrán M, Costa Comellas L, Álvarez Molinero M, Munell Casadesús F, Redecillas Ferreiro S and Segarra Cantón O
Spinal muscular atrophy (SMA) type 1 is a severe neuromuscular disorder caused by mutations in the SMN1 gene. Historically associated with poor survival, recent advances in targeted therapies have significantly improved prognosis. This study aimed to describe the evolution of nutritional support in patients with SMA type 1 at a tertiary care reference center between 2008 and 2023. A retrospective descriptive analysis was conducted including 19 patients, classified into three treatment groups: supportive care, pharmacologic treatment (intrathecal Nusinersen or Risdiplam), and gene therapy. Nutritional interventions, respiratory support, complications, and clinical evolution were recorded. Among patients receiving only supportive care, 83% required nasogastric feeding and experienced 100% mortality by a median of 5 months. In the pharmacologic treatment group, 63% required long-term enteral feeding and one death occurred due to non-neurological causes. In the gene therapy group, only one child required long-term nutritional support, and all patients showed favorable clinical progression. Our findings highlight the transformation in nutritional needs prompted by disease-modifying therapies, underscoring the importance of early and specialized nutritional intervention. Multidisciplinary management including pediatric nutrition specialists is essential for optimal care of SMA type 1 patients.
