Emory University researchers are exploring the possibility of designing a clinical trial for those at risk for familial or inherited ALS (Amyotrophic Lateral Sclerosis), also known as Lou Gehrig's disease. Since familial ALS is very rare - only 10 percent of those diagnosed with ALS inherit the disease from a parent - the researchers must first determine the number of people who might be eligible for such a study and whether they might be willing to participate. The researchers believe a study in this small population could provide insight into preventing, delaying the onset or slowing down the disease.
ALS is a neurodegenerative disease that usually attacks both upper and lower motor neurons, producing progressive weakness of muscles critical for moving, speaking and eventually, breathing. While cognitive functions are usually unaffected, patients with ALS are very aware their bodies are withering away. The ALS Association estimates that as many as 30,000 Americans may have the disease at any given time.
"We are casting a wide net in hopes of finding enough people who may be at risk of developing familial ALS to conduct a research study on this specific group of people," says Jonathan Glass, MD, professor of neurology at Emory University School of Medicine and director of the ALS Center at Emory. "Approximately one in 100,000 people develop ALS, and only about 10 to 15 percent of these people have familial ALS. Because the condition is so rare and the population of people is so small, testing therapies in familial ALS will be extremely difficult. We hope this effort to identify people at risk for familial ALS will allow us to pursue clinical studies in this population in the future."
The best animal model for human ALS is the mouse model of SOD1-related familial ALS. Unfortunately, however, none of these successes in ALS mice has worked to change the course of human ALS. Since all clinical trials to date have been conducted in people with sporadic ALS, which makes up 90 percent of all ALS cases, there is no information about whether these treatments that seem to work in ALS mice carrying SOD1 mutations might also work in that rare subset of ALS patients that carry SOD1 mutations. There is reason to suspect that people with familial ALS may respond differently to treatment than those with non-familial or sporadic ALS, hence the need for this research study.
"We believe that there are both scientific and ethical reasons to test for the SOD1 mutation in people," says Dr. Glass. "We know that if you carry the mutation, you are going to get ALS. But just how many people are out there with the mutation? Are they willing to participate? Where are they in the U.S.?"
Now, the Emory researchers are searching for individuals who have had two or more family members diagnosed with ALS. They want to identify healthy individuals in these families that are at risk for developing ALS. The initial contact will consist of a telephone conversation with a nurse that will last approximately 20 minutes. During the conversation, questions will be asked about the individual's health and family history. Those at risk will be questioned about their interest in participating in a clinical trial aimed at delaying or preventing the onset of the disease.
A second study may follow and would include a treatment trial intended to delay or prevent the onset of ALS in at-risk individuals. Participation in both stages of the trial is voluntary.
Those who believe they have familial ALS, or who may be at risk for developing familial ALS (two or more family members with ALS), and those who are interested in learning more about this study, can call the ALS Center at Emory University toll-free at 1-888-413-9315.