Dados do Trabalho

Título

FIREFISH PARTS 1 AND 2: 4-YEAR EFFICACY AND SAFETY OF RISDIPLAM IN TYPE 1 SPINAL MUSCULAR ATROPHY

Introdução

Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier, approved in more than 90 countries worldwide.

Objetivo

To assess the safety, tolerability and pharmacokinetics/pharmacodynamics of different risdiplam doses.

Método

FIREFISH (NCT02913482) is a multicenter, open-label, two-part study of risdiplam in children with Type 1 spinal muscular atrophy (SMA) and two SMN2 gene copies (inclusion criteria: 1–7 months old at enrollment). FIREFISH Part 1 assessed the safety, tolerability and pharmacokinetics/pharmacodynamics of different risdiplam doses. Pivotal Part 2 assessed the safety and efficacy of risdiplam over 24 months at the dose selected from Part 1. Thereafter, children entered a 3-year open-label extension phase and continue to receive risdiplam at the pivotal dose.

Resultados e Conclusões

Pooled safety and efficacy data were available from 58 enrolled infants who received risdiplam treatment (Part 1 high-dose cohort, n=17; and Part 2, N=41). As of the cut-off date (23 November 2021), there were no treatment-related adverse events leading to withdrawal, no additional deaths and no additional children meeting the definition of permanent ventilation since Month 24. At Month 36, 84% of children were alive and did not require permanent ventilation. Children either maintained or improved their motor skills in terms of developmental milestones and motor function between Months 24 and 36, which is not observed in natural history.
Here we present longer-term pooled safety and efficacy data from children who have received risdiplam at the pivotal dose for at least 48 months. FIREFISH Parts 1 and 2 are ongoing globally and will provide further safety and efficacy data of risdiplam in the treatment of Type 1 SMA.

Palavras Chave

spinal muscular atrophy, risdiplam, treatment, motor neuron disease, SMN1

Declaração de conflito de interesses de TODOS os autores

none

Fonte de Fomento (se houver)

Referências (se houver)

Área

Doenças neuromusculares