An experimental drug called ulefnersen is demonstrating remarkable effectiveness in treating a rare and aggressive form of Amyotrophic Lateral Sclerosis (ALS) caused by a specific genetic mutation. Columbia neurologist Dr. Neil Shneider presented findings in The Lancet, highlighting unprecedented functional recovery in some patients.
The study focused on individuals with ALS linked to mutations in the FUS gene, which accounts for only 1% to 2% of all ALS cases. In these patients, toxic FUS proteins accumulate in motor neurons, leading to their destruction. Ulefnersen, developed by Dr. Shneider in collaboration with Ionis Pharmaceuticals, targets these toxic FUS proteins.
Two patients exhibited extraordinary responses: one woman regained the ability to walk and breathe independently, while another remained symptom-free after three years of treatment, showing improved muscle activity. The drug also significantly reduced nerve damage biomarkers in the patient cohort. Ionis Pharmaceuticals is sponsoring a global clinical trial of ulefnersen, led by Dr. Shneider, to further evaluate its efficacy.