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Breakthrough Emory study makes major advance toward earlier ALS detection
Emory Health Sciences - Jennifer Johnson McEwen
Researchers at Emory University School of Medicine have identified 10 blood proteins that, when analyzed together, can distinguish people with amyotrophic lateral sclerosis (ALS) from healthy individuals with nearly 98% balanced accuracy. The findings, published this week in "Nature Communications," could pave the way for a blood test that helps doctors recognize ALS earlier.
Currently, there is no single test that can definitively diagnose ALS, and patients often wait nearly a year after symptoms begin to receive a diagnosis. A blood-based screening tool could help physicians identify patients who need further evaluation by a neurologist or specialized ALS center, potentially reducing major delays in care.
The Emory study was supported by Hop On A Cure and the Muscular Dystrophy Association.
ALS, also known as Lou Gehrig's disease, is a progressive neurological disease that affects nerve cells responsible for muscle movement. Early symptoms, including muscle weakness, cramps and difficulty walking, can resemble other conditions, making the disease difficult to recognize in its early stages.
"ALS is a complex disease, and relying on a single biomarker doesn't capture the full picture," says Eleanor Thomas, MD, PhD, assistant professor of neurology at Emory University School of Medicine and co-principal investigator of the study. "By combining proteins associated with different aspects of the disease, including nerve-cell injury and inflammation, we were able to identify ALS with much greater accuracy."
Researchers analyzed hundreds of proteins in blood samples from people with ALS and healthy individuals. They identified 10 proteins that, when evaluated together, distinguished the two groups with approximately 98% balanced accuracy.
The combination performed substantially better than neurofilament light (NfL), a leading blood biomarker for ALS that can also be elevated in other neurological conditions.
Emory researchers analyzed blood samples from 632 people with ALS and 160 healthy individuals using a highly sensitive technology called Nucleic Acid Linked Immuno-Sandwich Assay or NULISA. This technology can measure extremely small amounts of proteins in the blood, including those released when nerve cells are damaged. Its ability to detect even trace amounts of these proteins is especially important for ALS research because some of the most useful indicators of the disease, such as NfL, are found in the blood at much lower levels than other common proteins.
"For patients and families, the time spent searching for an ALS diagnosis can be incredibly difficult," says Jonathan Glass, MD, director of the Emory ALS Center and co-principal investigator of the study. "A blood test that helps physicians recognize ALS earlier could reduce unnecessary testing and get patients to specialized care and treatment much sooner."
Earlier recognition could also give patients more time to explore treatment options, participate in clinical trials and plan for their care.
While the findings are encouraging, researchers say additional studies are needed to determine whether the protein panel can reliably distinguish ALS from other neurological and neuromuscular conditions with similar symptoms.
"Our goal is to turn these findings into a practical tool that physicians can use to recognize ALS earlier," says Thomas. "There is still work to be done, but this brings us closer to shortening the diagnostic journey for patients and their families."
The study, "Ten protein panel predicts ALS from plasma with high accuracy," was led by Woo Jae "Andrew" Kim, with Thomas and Glass serving as co-principal investigators. The research was conducted entirely at Emory University. Additional funding was provided by the American Brain Foundation, the ALS Association and the American Academy of Neurology.
Read the study: HERE.
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