Participating in the 2017 Annual Northeast ALS Consortium (NEALS) meeting in Florida recently, biotech company Oxford BioDynamics presented two different epigenetic signatures for the diagnosis and prognosis of amyotrophic lateral sclerosis (ALS).
The presentation was a result of a prospective study to determine the sensitivity and specificity of two epigenetic-based ALS disease signatures for the diagnosis and prognosis of ALS.
In the study, researchers tested and compared blood samples of 100 subjects at three and six months following the first visit. During each visit, participants underwent the ALS Functional Rating Scale-Revised (ALSFRSR), an assessment tool for measuring ALS-associated disability, as well as forced vital capacity tests.
To analyze blood samples, the research team used Oxford BioDynamics’ EpiSwitch, which detects and validates domains within the genome — called chromosomal conformation signatures — that change gene regulation.
The company’s senior director, Dr. Willem Westra, presented the study results at an Industry Partner Roundtable. He compared the genomic architecture of healthy and diseased patients as observed in their blood samples, which revealed that two ALS-related epigenetic signatures stood out — one with potential for diagnosis and the other for prognosis.
The diagnostic signature reported a sensitivity of 88% and a specificity of 75%. The prognostic test reported sensitivity and specificity of 80% each.
“This prospective study has delivered two new and unique epigenetic biomarker signatures that have the potential to improve the time to diagnosis and provide a predictive prognosis for the progression of the disease. We look forward to further expanding our EpiSwitch ALS studies in close collaboration with leading clinical experts, both in US and UK. Our aim is to contribute to improvement in ALS patient care and to support ALS therapeutic developments by improving diagnostic and prognostic patient stratifications,” Dr. Alexandre Akoulitchev, chief scientific officer at Oxford BioDynamics, said in a press release.
The NEALS meeting was held Oct. 3-5 at the Opal Sands Resort in Clearwater Beach, Florida.
NEALS is a platform created to boost and translate scientific advances into clinical research and new treatments for people living with ALS. The platform offers resources for patients, caregivers, and ALS researchers and shares the latest information about clinical trial results and ALS events.