New study identifies effective blood tests for ALS diagnosis and monitoring

New study identifies effective blood tests for ALS diagnosis and monitoring

ALS, or amyotrophic lateral sclerosis, can sometimes be difficult to diagnose or predict how quickly the disease will progress. A new study helps determine which blood tests are best for identifying and monitoring ALS. The study will be published on February 26, 2025, online edition ofNeurology®the medical journal of theAmerican Academy of Neurology.

An effective biomarker can be very valuable in diagnosis, predicting prognosis, assessing the stage of diseases and tracking their progress or response to treatments.

Sylvain Lehmann, MD, PhD, study author from INSERM Hospital and the University of Montpellier, France

The study compared three types of blood biomarkers: neurofilament light chain proteins, glial acidic proteins and phosphorylated tau 181. Neurofilament light chain proteins can be detected in the blood when nerve cells are injured or die. Glial acidic proteins are released as cells work to repair injuries. Phosphorylated Tau 181 is linked to the buildup of amyloid proteins in the body, which occurs in Alzheimer's disease.

For the neurofilament light chain proteins, researchers also tested four techniques for measuring levels.

The study included 139 people who had ALS and 70 people who did not have ALS but had similar diseases such as lower motor neuron disease and primary lateral sclerosis.

The researchers tested their blood using these three types of biomarkers. They followed participants for an average of 3.5 years for the people with ALS and about 12 years for the people who didn't have ALS. During this time, 86% of people with ALS died, compared to 8% of people with other diseases.

In neurofilament light chain proteins, people with ALS had three times higher levels than people with other diseases.

The study found that the neurofilament light chain tests correctly identified people with ALS more than 80% of cases. The accuracy of diagnosis for glial acidic protein and phosphorylated tau-181 tests was poor, with accurate results approximately 50% of the time.

The researchers also identified a level of neurofilament light chain protein that may help predict survival in people with ALS. Within a year, more than 40% of people with protein levels below this point were still alive, while none of the people with above this point were still alive.

“While more research needs to be done to confirm these results, it is important for people with ALS and their families, as well as the doctors who treat them, to have better information about the prognosis,” Lehmann said.

A limitation of the study was that all participants were from the same area of ​​France, so the results may not apply to people from other areas.

The study was supported by the French Foundation for Medical Research and the AXA Interval Project.

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