This simple blood test can detect ALS early

Scientists have developed a simple blood test that may help detect amyotrophic lateral sclerosis, or ALS, earlier and more accurately than current methods. ALS is a progressive neurodegenerative disease. Actor Eric Dane recently shared his ALS diagnosis. According to the recent estimates by the CDC, almost 30,000 people in the United States may be living with ALS now. Every year, over 5,000 new cases are diagnosed among Americans.

The researchers at UCLA Health have developed a blood test that shows promise in detecting ALS early. The study is published in the journal Genome Medicine.

What is ALS?

ALS (Amyotrophic Lateral Sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Progressive means the symptoms get worse over time.

Also known as Lou Gehrig's disease, it is a motor neuron disease. As it affects the nerve cells in both the upper and lower parts of the body, ALS causes the muscles to become weak and leads to paralysis. This disease is slightly more common in men compared to women.

Early symptoms include:

• Muscle twitches in the arm, leg, shoulder, or tongue
• Muscle cramps
• Tight and stiff muscles (spasticity)
• Muscle weakness affecting an arm, a leg, or the neck
• Slurred and nasal speech
• Difficulty chewing or swallowing

A simple blood test to detect ALS

The researchers have found a simple blood test that can provide faster and more accurate diagnosis of ALS by measuring cell-free DNA. It is the first to test cell-free DNA, which is fragments of DNA released into the blood from dying cells, as a potential ALS biomarker. The cell-free DNA can also distinguish between different neurological diseases, the researchers said.

This non-invasive test not only allows neurologists to rule out other neurological diseases but also detects ALS disease earlier to provide better treatment and potentially improve life expectancy.

The onset of ALS typically begins in 50-70 years old, with life expectancy being only two to five years after initial diagnosis, according to the National Institutes of Health. Though ALS is rare in those aged 40 or younger, ean arlier diagnosis can provide higher life expectancy.



“There is an urgent need for a biomarker in ALS to diagnose patients more quickly, support clinical trials and monitor disease progression. Our study presents cell-free DNA, combined with a machine learning model, as a promising candidate to fill this gap,” the study’s lead author Dr. Christa Caggiano, a postdoctoral fellow at UCLA Health’s Neurology Department, said in a statement.

“Our model test could not only distinguish ALS patients from healthy individuals but also from those with other neurological conditions, which is a challenge for current ALS biomarker. We hope this could lead to faster diagnoses and better predictions of patient outcomess,” Caggiano said.

Another advantage of this test is that it examines cell-free DNA from several tissue types and not just nerve cells. Which means, it can pick up signals from dying muscle tissue and inflammation, suggesting that ALS may also affect muscle tissues and immune cells.