According to a story from fox43.com, an experimental therapy for the genetic form of amyotrophic lateral sclerosis (ALS) has been termed “game changing.” A study that will soon be presented at the American Academy of Neurology annual meeting found that the experimental treatment, called tofersen, was able to significantly slow down the progression of the disease.
About Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic lateral sclerosis, otherwise known as Lou Gehrig’s disease, is a rare, degenerative disease that causes the death of nerve cells associated with the voluntary muscles. Little is known about the origins of amyotrophic lateral sclerosis, with no definitive cause in about 95 percent of cases. The remaining five percent appear to inherit the disease from their parents. Symptoms initially include loss of coordination, muscle weakness and atrophy, muscle stiffness and cramping, and trouble speaking, breathing, or swallowing. These symptoms worsen steadily over time; most patients die because of respiratory complications. Treatment is mostly symptomatic and the medication riluzole can prolong life. Life expectancy after diagnosis ranges from two to four years, but some patients can survive for substantially longer. To learn more about amyotrophic lateral sclerosis, click here.
Genes and ALS
As most cases of amyotrophic lateral sclerosis are not directly linked to a heritable genetic mutation, only around two percent of patients with the disease are likely to see benefit from tofersen, but the fact remains that this investigational drug has real potential to give this group of patients an improved quality of life and prolonged survival. The drug targets a genetic variant of amyotrophic lateral sclerosis that is caused by a mutation of the SOD1 gene. This is just one of several mutations that are linked to a genetic form of the disease.
The study looked at 50 patients with SOD1-linked genetic amyotrophic lateral sclerosis. The study found that the highest dose cohort, of 100 mg, saw the greatest benefit. The presence of the mutated SOD1 protein was reduced by 37 percent in this group. Side effects of tofersen treatment in the study were minor.
Scientists believe that tofersen could be more effective than other forms of treatment for amyotrophic lateral sclerosis because it can be used preemptively. If a patient knows that they have inherited SOD1-linked amyotrophic lateral sclerosis than the drug can be used before serious symptoms begin to appear.