A study mapped SOD1 variants and tofersen access in six Central Eastern European countries
Original source
SOD1 Variants in Patients With Amyotrophic Lateral Sclerosis in Central Eastern Europe: From Genetic Testing to SOD1 Targeted Therapy. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
Researchers identified 67 people with amyotrophic lateral sclerosis (ALS) carrying pathogenic SOD1 variants among 1,200 patients across six Central Eastern European countries. They found 24 distinct variants, and 42 people were receiving tofersen therapy. Most of the SOD1-associated cases in the study were familial ALS, while about one-third were classified as sporadic ALS.
Why this matters
The findings provide regional information that may help inform genetic testing, counselling and access to SOD1-targeted treatment. They do not establish that tofersen benefits these patients beyond what has been shown in treatment studies, and they do not change treatment recommendations on their own.
Limitations and context
This was a multicentre observational study of patients from six countries, so its findings may not represent all people with ALS in the region. The study reports access to tofersen but does not test its effectiveness. The reported numbers also depend on the availability of genetic testing and on how variants and ALS family history were classified.