New data has been reported supporting the clinical validation of MS Precise (DioGenix), a next-generation sequencing assay for the identification of patients with multiple sclerosis at first clinical presentation.
The prospective study met its primary endpoint by demonstrating the ability of MS Precise to diagnose patients with multiple sclerosis. The test performed consistently with previous clinical studies, having a specificity of 82% while maintaining sensitivity comparable previously published on the current standard of care (p=0.0027).
Over 200 subjects who were being evaluated for non-specific neurological symptoms that could be multiple sclerosis were enrolled in the prospective, blinded clinical trial. Each subject was undergoing a comprehensive evaluation using the current standard of care for imaging of the central nervous system and analysis of their cerebral spinal fluid and blood.
The study compared the results of MS Precise DNA mutational analysis with a consensus diagnosis made by a panel of independent neurologists. According to the company, the MS Precise interpretive scoring system provides a simple scaled score to the neurologist who differentiates patients with the disease from those with other similarly presenting neurological diseases. Thirteen multiple sclerosis clinical centres of excellence participated in the trial—believed to be the largest prospective diagnostic study of its kind in multiple sclerosis. Results from this study are expected to be submitted for peer review.
“MS Precise interrogates key genes involved in the immune system of patients being evaluated for multiple sclerosis. The growing body of evidence indicates this next-generation sequencing assay may advance our efforts to more accurately diagnose patients with the disease or other immune-mediated neurological disease,” explains Elliot M Frohman, professor of Neurology and Ophthalmology and director, MS Program and Clinical Center for MS at The University of Texas Southwestern Medical Center, USA.
These results are consistent with two prior DioGenix studies that compared MS Precise to published performance data for the oligoclonal banding test and experimental controls. In a previous, retrospective verification study, MS Precise demonstrated a clear improvement in the ability to classify early-stage multiple sclerosis patients from those with other similarly presenting neurological diseases in comparison to the oligoclonal banding analysis.
“DioGenix continues to clearly demonstrate the power of MS Precise to accurately identify patients with neurodegenerative diseases like multiple sclerosis. It should offer neurologists greater insight into early disease events by exploiting the incredible biological resolution provided by next-generation sequencing. As we are able to now more accurately measure these key early biological changes, we believe we can help inform more appropriate courses of treatment for individuals who suffer from these types of immune-mediated diseases,” adds Larry Tiffany, president and CEO of DioGenix. “The positive results of our validation study give us a green light to initiate our pre-commercial strategy.”