Early genetic detection of MS moves forward

DioGenix, based in Bethesda, Md., and specializing in molecular imaging tests, announced Jan. 27 that preliminary research has validated the company’s new genetic sequencing assay, MSPrecise. The screening tool would identify people with multiple sclerosis (MS) in the very earliest stages of disease when symptoms are still subtle. The company touted it as the first laboratory innovation in nearly 50 years.          

The company relayed via official statement that the currently unpublished study proved that analysis of DNA mutation with MSPrecise was effective as a diagnostic test for MS. Sensitivity was deemed in line with the current standards and specificity was noted at 82 percent. Currently patients suspected of having MS are evaluated with central nervous system imaging as well as blood and cerebral spinal fluid analysis.

The prospective, blind clinical trial included 200 patients who were all assessed for MS after being found to have non-specific neurological symptoms across 13 medical institutions.

"MSPrecise interrogates key genes involved in the immune system of patients being evaluated for MS. The growing body of evidence indicates this next-generation sequencing assay may advance our efforts to more accurately diagnose patients with MS or other immune-mediated neurological disease," remarked Elliot M. Frohman, MD, PhD, a professor of neurology and ophthalmology and director the University of Texas Southwestern Medical Center’s MS Program, in the statement.

The current standard is thought to require months or perhaps years to determine a definitive diagnosis. DioGenix asserts that these tests are complicated by a high rate of false positives. MSPrecise aims to detect early-stage MS by measuring DNA mutations from immunoglobulin genes from cells that are isolated from cerebrospinal fluid. The technique focuses on adaptive immunity in order to gauge severity of disease and inform proper treatment selection.

"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," said president and CEO of DioGenix, Larry Tiffany. "The positive results of our validation study give us a green light to initiate our pre-commercial strategy."

This research is currently sponsored by Fast Forward, a subsidiary of the National MS Society based in New York, N.Y.