Patient Condition
The patient developed left upper limb weakness and muscle atrophy since the age of 40, and was diagnosed with ALS at the age of 41. Genetic testing revealed a SOD1A4V mutation (the most common SOD1 mutation in North America with a poor prognosis). At the time of diagnosis, ALSFRS-R was 30, FVC was 68%, and the progression rate was rapid (monthly drop of 1.5 points).
Treatment Timeline
| Phase | Details | Date |
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| Tofersen treatment initiation | | |
| Continuous treatment and monitoring | | |
| long-term maintenance | | |
Treatment Outcome
| before | ALSFRS-R 30, monthly drop 1.5, FVC 68%, SOD1A4V mutation, poor prognosis |
|---|
| after | ALSFRS-R 25 points, 2-year decrease of 5 points (delay of 83%), FVC 60%, SOD1 protein decrease of 50% |
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| highlight | Tofersen targeting the SOD1A4V mutation delayed progression by 83%, and significantly reduced serum NfL and SOD1 proteins |
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