Dados do Trabalho

Título

RISDIPLAM IN PEDIATRIC SPINAL MUSCULAR ATROPHY: REAL-WORLD DATA FROM A NEUROMUSCULAR CENTER

Introdução

Risdiplam is approved for the treatment of 5q spinal muscular atrophy (5q-SMA) from 16 days of age onwards. Although clinical trials have shown improvements or stabilization in motor and respiratory function, real-world data is still scarce.

Objetivo

To describe the experience of a neuromuscular specialized center in Brazil in treating SMA pediatric patients with risdiplam and to analyze clinical aspects during a follow-up period up to 11 months (range 2-11; mean 6,4 months).

Método

Pediatric SMA patients who have been treated with risdiplam in a specialized public outpatient clinic have been followed by a multidisciplinary team from August 2023 to July 2024. All patients who received risdiplam for at least 2 months were included. At each follow-up visit, subjective global impression of the patient or caregiver and adverse treatment events have been collected. Motor scales and respiratory assessments have also been performed when feasible.

Resultados

All 10 patients were treatment-naïve. They started risdiplam between 17 days and 17 years old (mean 6,9 years). Four patients began treatment in a pre-symptomatic phase. Two patients were SMA type 1, 3 were SMA type 2 and 1 was SMA type 3. Motor scales were regularly applied only to pre-symptomatic or type 1 SMA children. All pre-symptomatic patients had 2 copies of SMN2 and achieved maximum score on Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) at 4 months old. One SMA type 1 patient started treatment with risdiplam with 17 days old and his CHOP INTEND score increased from 29 to 44 within 3 months of treatment. The other SMA type 1 patient started treatment with 14 years old and was severely affected, without any change from baseline. Among the 4 patients with SMA type 2 or 3: one reported stability, one worsening of fatigue and two motor improvement. Two SMA type 2 patients and both type 1 have used ventilatory support, with no change in time of use. Two patients reported adverse effects: one had anemia and one hair loss. During follow-up, 2 pre-symptomatic patients switched to zolgensma because it is a single dose therapy.

Conclusão

Risdiplam was well tolerated and most patients experienced clinical improvement or stabilization. This real-world data from risdiplam showed results similar to those from clinical trials.

Referências

Pascual-Morena C, Martínez-Vizcaíno V, Cavero-Redondo I, Martínez-García I, Moreno-Herráiz N, Álvarez-Bueno C, Saz-Lara A. Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta-analysis. Pharmacotherapy. 2024 Jan;44(1):97-105. doi: 10.1002/phar.2866. Epub 2023 Aug 21. PMID: 37574770.

Palavras Chave

Risdiplam; Spinal muscular atrophy; Pediatrics