A devastating disease can now be detected by a blood test up to a decade before symptoms occur

A revolutionary blood test, developed by an international group of researchers, manages to identify with over 98% accuracy the signs of amyotrophic lateral sclerosis (SLA) up to ten years before symptoms, opening important prospects for early diagnosis, more effective treatments and improving patient care.

By 2040, experts estimate that 400,000 people around the world will live with amyotrophic lateral sclerosis, also known as Lou Gehrig's disease – after a famous American baseball player who died from this condition, notes News.ro.

This degenerative disease of the nervous system affects the nerve cells responsible for controlling the voluntary movements of the muscles, leading to progressive muscle weakness, losing muscle mass and, finally, respiratory difficulties.

According to the SLA Association, patients diagnosed with this disease live, on average, three years, only 10% of them managing to survive more than ten years. Most patients die from respiratory failure.

Currently, there is no single unique and conclusive test for SLA. Doctors establish the diagnosis based on neurological evaluations, observed symptoms and by excluding other diseases that could cause similar manifestations.

A long -awaited diagnostic test

Researchers at Johns Hopkins University School of Medicine and national health institutes (National Institutes) in the United States, in collaboration with UK BioBank and the University of Turin, Italy, have identified a distinct blood protein set that can detect SLA with remarkable precision, with a decade before symptoms.

The new blood test for SLA detects early signs years before the symptoms appear. The test has an accuracy of over 98% and opens new perspectives for early diagnosis, improved patient care and possible treatments of this neurodegenerative disease.

The results of the new study, recently published in Nature Medicine magazine, lay the foundations of a long -awaited diagnostic test for this devastating disease.

Based on an advanced platform that analyzed nearly 3,000 skeletal neurological and muscle proteins in the blood samples of over 600 participants, the researchers used automatic learning methods to identify a protein signature capable of indicate SLA.

The identified protein, analyzed by computerized models, has been shown to have an accuracy of over 98% in differentiating patients with SLA by healthy people and those with other neurological diseases.

“We see the light at the end of the tunnel here, and the target is a blood test approved and available for SLA. With a test that allows the early detection of SLA we have the opportunity to enroll people in observational studies and to provide promising drugs – and we even hope to stop – the disease, before it becomes a weak,” said Dr. Neurology at Johns Hopkins University School of Medicine and director of Johns Hopkins Atypical Parkinsonism Center, quoted in a statement.

Remarkable precision in the differentiation of SLA

The study examined not only patients with active disease, but also people who had donated blood samples for years before developing SLA. In these pre-symptomatic people, the researchers have observed unknown changes in blood proteins so far, before patients develop symptoms.

These protein changes indicate early dysfunctions in the skeletal muscles, nerve signaling and energy metabolism, suggesting that SLA could affect the body long before the known clinical signs.

The team confirmed the accuracy of the test on several independent groups, including a group of 23,000 participants in the UK Biobank.

Within this group, blood samples from 110 people, collected 10 to 15 years before developing SLA, presented changes in the protein profile identified in the study.

These discoveries suggest that SLA biological markers can be detected up to a decade before the occurrence of clinical symptoms.

“We have always assumed that SLA is a rapid disease, which starts 12-18 months before the onset of symptoms, but when we look at the results, we see that this process takes a decade or even more, before the patient arrives at the doctor,” explains Dr. Pantlyat.

In each validation group, the test has shown a strong ability to detect SLA, minimizing false-positive results caused by other neurological conditions such as Parkinson's disease or neuropathy.

The research continues

The study confirmed that these changes in the protein were not caused by inherited genetic mutations, which means that markers identified in the blood could be widely used, including patients without a family history.

“It is vital to patients and their families can make the difference between SLA and other conditions, for the clarity of the diagnosis, understanding the prognosis and the eligibility to enroll in the appropriate clinical studies,” says Dr. Pantlyat.

Research continues to explore how this biomarker could help monitor SLA progression, evaluate the efficiency of treatments in clinical studies and develop diagnostic tools for other neurodegenerative diseases.

The research team also made its data available to the public, to accelerate progress in the development of SLA biomarkers.