Patient Condition
The patient developed lower limb weakness since the age of 36, and was diagnosed with ALS at the age of 37. Genetic testing revealed a mutation in SOD1D90A (more common in Asia and relatively slow to progress). At the time of diagnosis, ALSFRS-R was 35, FVC was 78%, and both lower limb muscle strength was grade 4. The progress rate is moderate (0.8 points per month).
Treatment Timeline
| Phase | Details | Date |
|---|
| Tofersen treatment initiation | | |
| ongoing treatment for | | |
| long-term maintenance | | |
Treatment Outcome
| before | ALSFRS-R 35, monthly decline 0.8, FVC 78%, SOD1D90A mutation |
|---|
| after | ALSFRS-R 31 points, 2-year decrease of 4 points (delay of 83%), FVC 72%, walking independently |
|---|
| highlight | Tofersen targeting the SOD1D90A mutation delayed progression by 83%, maintaining good function in young patients |
|---|