A 58-year-old woman diagnosed with ALS became the first person in Israel and one of 100 individuals worldwide to gain access to this experimental treatment as part of a charitable mission. The Ichilov clinic is the only one in the country and one of the few in the world offering this unique therapy.
The medication in question is called Tofersen and is specifically designed for patients with ALS who have a mutation in the SOD1 gene. The drug is administered through an injection into the cerebrospinal fluid and aims to correct the genetic defect and produce a more functional SOD1 protein. Currently, Tofersen is under discussion with the FDA and awaits final approval.
Narcissus, the patient at Ichilov, was diagnosed with ALS two years ago. She has experienced the loss of a sibling due to the disease. A special genetic test revealed the SOD1 gene mutation in her, making her eligible to receive the new medication.
Professor Vivian Drory, the head of the neuromuscular diseases department at the Ichilov clinic, referred to Tofersen as a new hope for ALS patients. She described it as a technological breakthrough, citing clinical trial results that demonstrated a slowing of disease progression in some patients with the SOD1 mutation following the administration of the medication. This is particularly encouraging considering the limited treatment options available for such a devastating disease.
According to Professor Drory, the positive news extends not only to patients with the SOD1 mutation but also to others since the same technology can be used to develop specific medications for other mutations that contribute to the development of ALS. She expressed her belief that in 15 years, they will be able to prevent or delay the onset of the disease for the next generation of patients.
