A new study by a research team comprising experts from Johns Hopkins University (JHU) and the University of Yale has demonstrated that the early signs of amyotrophic lateral sclerosis (ALS) can be detected with a blood test up to a decade before the disease鈥檚 traditional clinical symptoms emerge.
To conduct the study, the team measured almost 3,000 neurological and skeletal muscle proteins in blood samples from over 600 participants and applied machine learning protocols to isolate a protein signature predictive of ALS.
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The researchers then examined the blood of ALS patients, and blood samples donated years before other individuals developed the condition. Among pre-symptomatic individuals, the researchers observed previously unknown changes in blood proteins before they later developed ALS symptoms. According to the team, the protein 鈥榮hifts鈥� observed were indicative of early dysfunction in skeletal muscle, nerve signalling and energy metabolism 鈥� suggesting ALS may affect the body long before traditional clinical signs emerge.
Recently published in , the team鈥檚 research demonstrated that the modelled protein signature was more than 98% accurate in distinguishing ALS patients from healthy individuals or those with other neurological diseases.
Associate professor of neurology at JHU School of Medicine and study co-investigator, Dr Alexander Pantelyat said: 鈥淲e had always assumed that ALS was a rapid disease that starts 12 to 18 months before symptom onset.
鈥淏ut when we look at our findings, we see this has been a process that goes on for a decade or so before the patient ever steps into the doctor鈥檚 office or clinic.鈥�
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By GlobalDataAccording to Pantelyat, an approved and widely available blood test could prove to be the 鈥渓ight at the end of the tunnel鈥� for ALS.
Pantelyat continued: 鈥淲ith a test that allows for earlier detection of ALS, we have opportunities to enrol people in observational studies, and by extension, offer promising disease-modifying 鈥� and hopefully disease-stopping 鈥� medications, before ALS becomes debilitating.鈥�
Most commonly known as Lou Gehrig鈥檚, ALS is a degenerative nervous system disease that damages nerve cells responsible for controlling voluntary muscle movement and leads to progressive muscle weakness. Research estimates that almost 400,000 individuals will be
No definitive diagnostic for ALS currently exists. At present, the condition is often screened for with tests such as electromyography (EMG),聽nerve conduction studies (NCS)聽to assess nerve and muscle function, and MRI, all primarily deployed to聽 exclude other disorders.聽
