Genetic Medicine and Precision Therapies

A Phase 3 clinical trial of pridopidine has begun enrolling people with ALS to test whether the drug can slow disease progression. Separately, Columbia University researchers report promising early results from an experimental antisense‑style therapy targeting a rare FUS mutation — including one patient whose EMG abnormalities normalized and who remains symptom‑free three years later — prompting optimism from Dr. Neil Shneider and supporting Columbia’s Silence ALS initiative to develop individualized gene‑based treatments.

A CBS News report profiles 41‑year‑old scientist Jeff Vierstra, a U.S. man from a family ravaged by a rare FUS gene mutation that causes early‑onset ALS, who has spent the past three years receiving experimental spinal infusions at Columbia University in what his neurologist calls the first known attempt to prevent ALS in a high‑risk carrier. Led by Dr. Neil Shneider at Columbia’s Eleanor and Lou Gehrig ALS Center, the treatment uses an agent that targets and disables the mutated FUS gene; after early EMG tests showed mild abnormalities suggestive of incipient disease, Vierstra’s muscle‑signal readings normalized within a year and he remains free of ALS symptoms, even as his two sisters, who also received the therapy after symptom onset, ultimately died of the disease. The piece notes that only 10–15% of ALS cases are genetic but about two‑thirds of those are familial, and that an estimated 35,000 Americans live with ALS, underscoring why researchers see pre‑symptomatic gene‑based interventions as a potential pivot from fatal prognosis to chronic management. Shneider cautions that the work is still experimental but calls it "a very big deal" and says his team is expanding efforts through Silence ALS, a program seeking patients with other rare genetic forms of ALS for individualized gene‑targeted therapies, a development already stirring cautious hope and questions about access among U.S. ALS families and advocacy groups online.