NEEDHAM, Mass. — In the battle to find a cure for amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, scientists from Belgium have made a rare discovery: a new gene that influences survival time of ALS. The findings, reported in a recent issue of Nature Medicine, were funded in part by CVS/pharmacy and the ALS Therapy Alliance, a Boston-based nonprofit. The findings also confirm another recent study that identified the same pathway to finding a treatment for ALS.
The research team, headed by Dr. Wim Robberecht, has found that loss of activity of a receptor called EphA4 substantially extends lifespan in this disease. Robberecht’s report began with observations in worm and mouse models of ALS. Investigators at the University of Massachusetts Medical School then documented that in rare human cases defects in the same gene prolong survival in human ALS.
“These findings are particularly exciting because they suggest that suppression of EphA4 may be a new way to treat ALS,” explained Robert Brown, a co-author and chair of Neurology at UMMS and president of the board for the ALS Therapy Alliance.
The UMMS team reported three weeks ago that there is another new ALS gene, profilin-1. PFN1 works in conjunction with EphA4 to control outgrowth of motor nerve terminals. Together these discoveries highlight a new molecular pathway in neurons that is directly related to ALS susceptibility and severity.
“It is exciting that two studies identify the same pathway in ALS; hopefully, this will accelerate efforts to find a treatment,” added John Landers, a scientist at UMMS and senior author of the PFN1 study.
ALS is a devastating degenerative disorder of motor neurons that leads to progressive weakness and paralysis; life expectancy is just three to five years. ALS attacks the nerve cells responsible for controlling muscles while leaving the brain intact, ultimately causing patients to become “trapped” in their own body. To date, there are no significant treatments for this disease.
The research received key funding from CVS/pharmacy, the largest corporate donor supporting cutting edge research for the cause and cure for ALS, and ALS Therapy Alliance. Over the last decade, the ALS Therapy Alliance, through support from CVS/pharmacy, has raised $30 million for ALS research, focusing on breakthrough studies that improve the understanding and treatment of ALS.
“CVS/pharmacy is proud to support the innovative research efforts generated through the ALS Therapy Alliance,” CVS Caremark EVP Jonathan Roberts said. “These new findings offer hope for the thousands of patients who suffer from ALS, and to their friends, families and communities.”
In addition to the ATA and CVS/pharmacy, the UMMS ALS research program was supported by Project ALS, P2ALS, the Angel Fund and the National Institutes of Health.