Oxford Biotech Finds First Epigenetic Biomarkers to Diagnose ALS

26/06/2018 - 3 minutes

Oxford Biodynamics has identified a set of epigenetic biomarkers that can be used to diagnose ALS in under 48 hours with a simple blood test.


There is currently no clinically validated method for ALS diagnosis. The process usually consists of a series of tests to discard other possible diseases, which take on average a year. An Oxford-based biotech is seeking to change this with the development of a blood test to diagnose ALS within 24 to 48 hours.


In collaboration with the University of Oxford and Harvard Medical School, the company has published a study today in the journal EBioMedicine detailing the development of a blood-based test for ALS using Oxford Biodynamics’ epigenetics platform.


Instead of looking at DNA sequences, the company focuses on the three-dimensional architecture of the DNA, which determines the epigenetics or regulation of genes. By comparing the genome architecture of ALS patients with healthy individuals, the researchers were able to find, out of 14,000 biomarker candidates, eight genome locations whose architecture can predict whether a person has ALS.


“These are epigenetic biomarkers that can be captured in peripheral blood for non-invasive testing,” Alexandre Akoulitchev, Chief Scientific Officer of Oxford BioDynamics, told me. He pointed out that the markers are located at the sites of genes implicated in the regulation of ALS, including genes involved in the innate immune system, neurotransmission, response to damage, and stress response as well as several genes known for being linked to hereditary cases of ALS.

When validating the test in an additional 16-patient group, sensitivity was 87.5% and specificity was 75%. This indicates the test has potential to yield false positive and false negative results. However, Akoulichev notes that “it is worth taking into account that results could be produced within 24 to 48 hours, while under current practice a definitive ALS diagnosis could take months.”


According to Akoulichev, the identification of these epigenetic biomarkers is just the first step in the plan of his company. “The next step is prognostic stratifications, in order to identify reliably at the time of diagnosis or trial recruitment, the fast and slow progression ALS cases,” he said. “Another step is biomarker analysis with further insights into the ALS regulatory networks and the identification of potential underlying subtypes of ALS.”


Considering that ALS is a complex disease, being able to stratify ALS patients into subtypes could help the development of treatments specific to different patient groups. Currently, there are only two approved drugs for ALS and the average survival is of only 3 years after diagnosis. Oxford Biodynamics’ test could be especially valuable in drug development and for the selection of participants in clinical trials of experimental ALS treatments, such as AB Science’s masitinib or stem cell transplantation approaches.

Images via Connect world /Shutterstock; Salter M. et al. EBIOMedicine, Vol 0

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