Amyotrophic Lateral Sclerosis (ALS)
Patient Condition
The patient developed left lower limb weakness at the age of 43, which gradually progressed to both lower limbs and right upper limbs. At the time of diagnosis, SOD1 mutant ALS (SOD1L144F mutation) was diagnosed, with an ALSFRS-R score of 28/48, and the onset occurred for 12 months. Having been using riluzole + edaravone for 6 months, the effect was not good, and the serum NfL was 95 pg/mL.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Tofersen precision targeted therapy | ||
| Combined immunomodulatory therapy | ||
| Long-term maintenance follow-up |
Treatment Outcome
| before | ALSFRS-R 28 points, decrease by 1.0 points/month, serum NfL 95 pg/mL |
|---|---|
| after | ALSFRS-R was 25 points, with a decrease rate of 0.04 minutes/month, NfL dropped to 38 pg/mL, and the condition was stable after 24 months. |
| highlight | Targeted ASO treatment reduces disease progression by 96%, and patients with SOD1 mutations benefit significantly |