Emory scientists use NIH grant to develop biomarkers for ALS tracking and prevention
Aug 16, 2007 - 4:00:00 AM
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Approximately 10 percent of ALS cases are genetically based, whereas the origin of the remaining 90 percent of ALS cases is still unknown.
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By Emory University,
[RxPG] The National Institutes of Health has awarded Emory University researchers a $275,000 grant aimed at developing protein biomarkers to diagnose, monitor and prevent amyotrophic lateral sclerosis (ALS).
The research team, which includes Jonathan Glass, MD, professor of neurology and pathology and Junmin Peng, PhD, professor of genetics and an internationally recognized leader in the field of proteomics, will investigate changes in proteins that correlate with the onset and progression of ALS, first in mice and then in humans.
Also known as Lou Gehrig's disease, ALS affects motor neurons, resulting in progressive muscle weakness and imminent death roughly two to five years after symptoms appear. In the United State alone, 30,000 people suffer from the disease at any one time.
The discovery of biomarkers for ALS will mark a major step forward in clinical care and development of new treatments, says Dr. Glass. ALS biomarkers could be used for early and definitive diagnosis, as well as disease progression and response to therapy. The absence of such markers represents a significant roadblock to clinical trials because the success or failures of treatment can be measured only by clinical outcome, which is always death. With the expertise of Dr. Peng we hope to identify changes in proteins that can be used as biomarkers.
Using cutting-edge techniques and building on previous protein analysis in mice, the researchers will analyze and compare thousands of proteins found in the spinal cords of mice having a specific pathogenic mutation in a gene known as superoxide dismutase (SOD1-ALS), located on chromosome 21.
We will look for proteomic biomarkers in these mice and then test for these biomarkers in people, Dr. Glass says. By doing so, we would have specific targets to test in people, starting with those who have genetically based ALS, a very small proportion of the population. At this point, people who have genetically based ALS are going to get ALS. But if we had a biomarker that heralded the onset of disease in this population, we could potentially have a clinical trial to prevent the disease from ever occurring. And later on, we could test this idea in a population without genetically based ALS.
Identifying biomarkers for ALS would also profoundly affect the efficiency of clinical trials involving possible treatments of the disease. If we had a biomarker that fluctuated with disease activity it would be possible to quickly find out if a treatment is working. Thus, we could shorten clinical trials because we would know early whether something worked or didn't work, allowing us to test more treatments on fewer people, says Dr. Glass.
Currently only one drug, riluzole, is effective in treating ALS. Riluzole is aimed at relieving symptoms, preventing complications and optimizing patients' quality of life.
Approximately 10 percent of ALS cases are genetically based, whereas the origin of the remaining 90 percent of ALS cases is still unknown.
We have no idea what causes this disease. We have dozens of theories, but no hard data, Dr. Glass says. We do know a little more about it in mice, however. We want to find a target we can go after and then see if we can make a difference.
| Funding information and declaration of competing interests:
National Institutes of Health
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