Oxford BioDynamics has used two epigenetic-based ALS signatures as diagnostic and prognostic tools for the disease.

Oxford BioDynamics has developed EpiSwitch, epigenetic biomarker technology for a wide range of diseases, including Alzheimer’s, cancer and Amyotrophic lateral sclerosis (ALS). A prospective study has tested the technology for the diagnosis and prognosis of ALS, achieving at least 75% accuracy. The company has presented its findings at the Northeast ALS Consortium Meeting in Florida.

ALS is a fatal neurodegenerative disease during which motor neurons are progressively lost from the central nervous system. Over time, sufferers will experience muscle weakness and wasting, eventually making everyday tasks very difficult. It has an average prevalence of 2 in 100,000, but higher numbers are seen in the UK and US. With no known cure, the mortality rate is high, with median survival from diagnosis at around 22 months.

Changes to epigenetic biomarkers known as ‘chromosome conformation signatures’ that cause ALS can be monitored using the company’s EpiSwitch technology. ALS diagnosis was predicted with 75% specificity, rising to 88% in a validation cohort, while the prognosis of fast- or slow-progressing ALS was 80% specific. The technology, which received the 2015 Frost & Sullivan Award for Technology Innovation, supports drug discovery and development, but the results of the prospective study suggest it could be useful in the clinic too.

Stephen Hawking, possibly the most well-known ALS sufferer.

In May, the first ALS drug for 20 years was approved by the FDA. But, this and other drugs on the market only slow the progression of the disease rather than providing a cure. AB Science obtained positive Phase III results for another drug that slows the progress of ALS, while British researchers have identified a mechanism that reverses neurodegeneration. They hope to control this to prevent ALS and other neurodegenerative diseases.

Combining accurate diagnosis with a cure would be the best possible solution. Oxford BioDynamics has kept up its side of the bargain and is keen to do more: We look forward to further expanding our EpiSwitch ALS studies in close collaboration with leading clinical experts… Our aim is to contribute to improvement in ALS patient care and to support ALS therapeutic developments,” explained Alexandre Akoulitchev, CSO of Oxford BioDynamics.

For the time being, finding a way to accurately diagnose the disease as early as possible would make a big difference, allowing treatments on the market that slow ALS progression to be initiated before the disease has taken hold. Looking ahead, it may be worth keeping an eye on this diagnostic tool to see if it can make the jump into therapeutics, as we saw with antibodies.


Images – Sebastian Kaulitzki / shutterstock.com;  Flickr.com / Lwp Kommunikáció

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