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• W3173576964 abstract "Type 1 spinal muscular atrophy (SMA) is a severe neuromuscular disease in which untreated infants fail to achieve motor milestones and typically die before 2 years of age. SMA is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations of the SMN1 gene. A second gene, SMN2, produces only low levels of functional SMN protein. Risdiplam (RG7916) is a centrally and peripherally distributed oral SMN2 pre-mRNA splicing modifier that increases the levels of functional SMN protein. FIREFISH (NCT02913482) is an ongoing, multicenter, open-label study of risdiplam in infants aged 1–7 months at enrollment with Type 1 SMA and two SMN2 gene copies. FIREFISH Part 1 (n=4 low-dose cohort, n=17 high-dose cohort [dose subsequently selected for Part 2]) assesses the safety, tolerability and pharmacokinetics/pharmacodynamics (PK/PD) of different risdiplam dose levels; confirmatory Part 2 (n=41) assesses the safety and efficacy of risdiplam at the dose selected in Part 1. Parts 1 and 2 had the same inclusion/exclusion criteria. There have been no treatment-related safety findings leading to withdrawal in any risdiplam trial (data-cut: 28th June 2019). Although Part 1 was not designed to assess efficacy, risdiplam treatment led to increased survival, improvements in motor function and motor milestone achievements in infants treated for 16 months (data-cut: 02nd July 2019). The primary endpoint of Part 2, the proportion of infants sitting without support for 5 seconds after 12 months on treatment (as assessed by the gross motor scale of the Bayley Scales of infant and toddler development, third edition) was met (data-cut: 14th November 2019). For the first time, we will present pooled safety and efficacy data from 58 infants in FIREFISH Parts 1 (n=17 high-dose cohort) and 2 (n=41) who received risdiplam treatment at the dose selected in Part 1 for a minimum of 12 months. FIREFISH Parts 1 and 2 are ongoing globally and will provide important data on the efficacy and safety of risdiplam in Type 1 SMA." @default.
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• W3173576964 date "2020-10-01" @default.
• W3173576964 modified "2023-09-26" @default.
• W3173576964 title "SMA – THERAPY" @default.
• W3173576964 doi "https://doi.org/10.1016/j.nmd.2020.08.270" @default.
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