Simple Blood Test Detects ALS with 98% Accuracy

Amyotrophic lateral sclerosis (ALS) is presently diagnosed via a neurologist’s clinical examination, but differentiating it from other neurological conditions requires tracking symptom progression, which can be challenging. Given that the average survival time for ALS is about three years, many patients experience significant deterioration before receiving a confirmed diagnosis. Misdiagnosis rates can be as high as 68%, which delays treatment and causes patients to be shuffled between specialists, leading to increased anxiety, unnecessary interventions, and higher healthcare costs. Now, a blood test for diagnosing ALS could be available in as little as two years.

Researchers at Brain Chemistry Labs (Jackson, WY, USA) have discovered an ALS-specific biomarker, an "ALS fingerprint," in the blood. This biomarker, made up of eight microRNAs (miRNAs), can be detected with a simple blood test. The team utilized next-generation sequencing and real-time PCR to analyze blood samples from individuals with ALS, Primary Lateral Sclerosis (PLS), Parkinson’s disease (PD), and healthy controls. Their findings, published in Brain Communications, show that the eight-microRNA ALS fingerprint can diagnose ALS with up to 98% accuracy and distinguish it from PLS and PD.

Image: Extracellular vesicles are nano-sized particles that circulate in the blood, are secreted by all cells, and contain microRNA (Photo courtesy of Paul Cox, Brain Chemistry Labs)

To ensure the reliability of the test, it was validated across four different patient groups, in two separate laboratories, using various technicians and collection methods. The ALS fingerprint consistently produced reliable results. Researchers believe that this blood test could aid neurologists in diagnosing ALS, complementing current clinical evaluations. A simple blood test for ALS could be a breakthrough, as it would speed up diagnosis, reduce patient anxiety, lower healthcare costs, and facilitate the development of new treatments. Given the high misdiagnosis rate, a negative result could also be incredibly useful. Brain Chemistry Labs aims to partner with a diagnostic company and make this test widely available to neurologists within the next 18 to 24 months.

“Faster diagnoses will allow for earlier treatment, which will improve patient outcomes,” said Sandra Banack, lead author of the study.

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