Tofersen was linked to slower decline in one person with ALS and an uncertain SOD1 variant
Original source
Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Population inferred from the title and abstract by Compass.
Related topics
A case report describes a person with respiratory-onset ALS and a variant of uncertain significance in the SOD1 gene who received tofersen. After six months, several biomarkers improved and functional decline slowed, while muscle strength remained stable.
Why this matters
The report suggests that individual treatment and biomarker responses may help assess whether some uncertain SOD1 variants are relevant to tofersen treatment. This does not establish that tofersen works for ALS linked to variants of uncertain significance or change treatment recommendations.
Limitations and context
This is a single-patient case report, not a controlled clinical trial. The SOD1 variant’s disease relevance remains uncertain, and longer follow-up and further evidence are needed to determine whether the observed changes were caused by tofersen or whether they predict meaningful clinical benefit.