Researchers studied tofersen for a rare genetic form of ALS caused by changes in the SOD1 gene. This form of ALS often gives a short life expectancy of about two to three years from first symptoms.
The drug lowers production of the mutated SOD1 protein. A phase 3 trial lasted six months and then continued as an open study. Long-term use slowed symptom progression and death. About one-quarter of people had stable function or improvement over roughly three years, including better grip strength and breathing. Common side effects were headache, pain and falls. A new trial is testing tofersen in people with the gene change but no symptoms yet.
Difficult words
- genetic — related to genes and inherited traits
- mutate — to change in a gene or DNAmutated
- trial — a planned medical test of a treatment
- progression — the process of a disease getting worse
- symptom — a sign or feeling showing a diseasesymptoms
- side effect — an unwanted health problem from treatmentside effects
- grip strength — how strong a person's hand squeeze is
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Discussion questions
- Would you consider joining a medical trial before you have symptoms? Why or why not?
- Which side effect in the article worries you most, and why?
- Why is it useful to test a drug in people who have the gene change but no symptoms yet?
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