Tofersen treatment in SOD1 p.Leu145Phe ALS: real-world outcomes in a genetically homogeneous Croatian cohort - PubMed
7 hours ago
- #tofersen
- #ALS
- #SOD1 mutation
- Tofersen, an antisense oligonucleotide, targets SOD1 mRNA to reduce misfolded SOD1 protein production.
- The study focused on a genetically homogeneous Croatian cohort with the SOD1 p.Leu145Phe mutation.
- Eight adults with confirmed SOD1 p.Leu145Phe ALS received intrathecal tofersen treatment.
- Patients exhibited lower limb-onset, slow-progressing lower motor neuron phenotypes.
- Median age at symptom onset was 60 years, with a median therapeutic delay of 48 months.
- Median on-treatment ALSFRS-R slope was -0.28 points/month, indicating slow progression.
- Two patients showed stable trajectories, while others had gradual decline.
- Tofersen was well tolerated with no serious treatment-related adverse events.
- Functional trajectories during treatment reflected the mutation's slow-progressing phenotype.
- Further mutation-specific studies with biomarker monitoring are needed to assess therapeutic impact.