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DOI: 10.1055/s-0041-1739636
FIREFISH Part 2: 24-Month Efficacy and Safety of Risdiplam in Infants with Type 1 Spinal Muscular Atrophy (SMA)
Background/Purpose: Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease caused by reduced levels of survival of motor neuron (SMN) protein due to deletions/mutations of the SMN1 gene. A second SMN gene, SMN2, produces only low levels of functional SMN protein. Risdiplam is an oral SMN2 pre-mRNA splicing modifier that increases the levels of functional SMN protein and has been approved by the FDA for the treatment of patients with SMA aged ≥2 months. This study's purpose is to determine the efficacy and safety of risdiplam in infants with Type 1 SMA after 24 months of treatment.
Methods: FIREFISH (NCT02913482) is a multicenter, open-label, two-part study of risdiplam in infants with Type 1 SMA and two SMN2 gene copies (inclusion criteria 1–7 months at enrollment). Part 2 (N = 41) assesses efficacy/safety of the Part 1-selected dose of risdiplam.
Results: The primary endpoint of Part 2 at 12 months was met (data-cut: 14th November 2019); 29% (p < 0.0001) of infants were able to sit without support for ≥5 seconds. This milestone was never achieved in natural history cohorts. After 12 months, risdiplam treatment also resulted in a significantly higher survival rate, due to improvements in motor function. No treatment-related safety findings leading to withdrawal were reported.
We will present efficacy/safety data from infants who have received risdiplam for 24 months.
Conclusion: The ongoing FIREFISH part 2 will provide important data on the long-term efficacy and safety of risdiplam in infants with Type 1 SMA.
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No conflict of interest has been declared by the author(s).
Publication History
Article published online:
28 October 2021
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