New Blood Test Detects Motor Neurone Disease with 97% Accuracy

Researchers at the US-based non-profit organization, Brain Chemistry Labs, have developed a groundbreaking blood test that can detect motor neurone disease (MND), specifically amyotrophic lateral sclerosis (ALS), with an impressive accuracy rate of 97 percent. This test identifies the disease in its earliest stages, even before symptoms manifest, offering hope for earlier intervention and treatment.

The innovative test was created after analyzing 788 blood samples—half from patients diagnosed with MND and the other half from healthy individuals. The focus of the research was on microRNAs, which are small genetic fragments found in the blood that play a crucial role in regulating cellular functions. Changes in the patterns of these microRNAs can signal the presence of disease, establishing them as potential biomarkers.

The research team successfully identified eight specific microRNAs associated with motor neurone disease. They first established the biomarker parameters using 449 individual blood samples and then employed a laboratory method called quantitative polymerase chain reaction (qPCR) to assess the remaining samples. The results indicate that the test accurately identifies patients with motor neurone disease in 97 percent of cases and correctly rules it out in 93 percent of those without the illness.

Dr. Rachel Dunlop, a senior researcher at Brain Chemistry Labs, highlighted the significance of this advancement. “This new test means that patients can initiate therapy early in the disease,” she stated in an interview with MedicalXpress. This capability could address one of the most pressing issues for individuals suffering from motor neurone disease: significant delays in diagnosis.

Dr. Paul Alan Cox, executive director and co-founder of Brain Chemistry Labs, emphasized the urgency of timely diagnosis. “For ALS, which typically results in loss of life within two to five years from the appearance of symptoms, a delay of one year in receiving a diagnosis is simply unacceptable,” he remarked. He noted that the ALS patient community is often underserved, which motivated the rigorous pursuit of this new diagnostic tool.

The research findings were recently presented at the International Symposium on ALS/MND and published in the journal Molecular Neurobiology. Dr. Sandra Banack of the research team stated that efforts are underway to commercialize the test. “We are seeking to identify a diagnostic firm to make this test commercially available,” she said.

Motor neurone disease affects approximately 5,000 adults in the United Kingdom alone, with ALS being the most prevalent form. The condition progressively impairs the nerves that control movement, leading to muscle weakness, loss of speech, and difficulties in breathing. Most patients have a life expectancy of two to five years following the onset of symptoms, although the rate of progression varies widely among individuals.

The issue of MND has gained increased attention, particularly following the diagnosis of former England rugby player Lewis Moody, who revealed he was diagnosed at the age of 47. The illness also claimed the life of rugby league star Rob Burrow, who was diagnosed in 2019 and became an advocate for increased research funding and improved patient care. Additionally, actor Eric Dane has recently disclosed his own diagnosis, highlighting the ongoing challenges faced by individuals with this devastating disease.

The case of renowned physicist Stephen Hawking, who lived with motor neurone disease for over 40 years, remains one of the most notable examples of the condition. Despite being diagnosed in his early twenties, Hawking significantly outlived the average life expectancy associated with ALS.

Experts believe that earlier and more accurate diagnoses could provide patients with better access to specialist care, symptom-relief treatments, and clinical trials, despite the current lack of a cure. Although motor neurone disease is typically diagnosed between the ages of 55 and 75, early signs can manifest as muscle twitches, a weak grip, and slurred speech, among other symptoms.

Recent advances in genetic research are shedding light on the underlying causes of MND. A study published earlier this year identified 423 ultra-rare genetic variants shared by individuals with ALS and those with another related condition, hereditary spastic paraplegia (HSP). These findings suggest there may be shared biological mechanisms at play, offering potential avenues for future treatments.

Dr. Gang Wu, a statistician who led the previous study, noted, “By analyzing a large dataset with multiple related motor neuron disorders, we found that genes associated with HSP could also increase the risk for sporadic ALS.” This could prove instrumental in identifying individuals at higher risk for developing the disease and in guiding future research efforts.

As the blood test moves closer to clinical application, the research community remains hopeful that it will contribute to improved outcomes for those affected by motor neurone disease.