Imagine a blood test that could allow a medical professional to diagnose multiple sclerosis (MS) within just seven days. Today, a diagnosis can take months or even years to confirm.
To date, no one test can guarantee a diagnosis of MS.
Currently, diagnosing MS is accomplished taking a detailed medical history and through tests such as a magnetic resonance image (MRI) of the brain and/or spinal cord and the process of elimination for other illnesses.
Due to the disease’s ability to mimic symptoms of other illnesses, and because no two people present MS symptoms exactly the same, the diagnosis process can sometimes be a guessing game.
The quicker, the better
Bruce Bebo, executive vice president of research at the National Multiple Sclerosis Society, leads the organization’s team, whose goal is to invest the agency’s resources in the most impactful way.
“There is an unmet need for speedier and more accurate ways to diagnose MS,” Bebo told Healthline.
The current process requires a process of elimination that can take time.
“Having a blood-based test could simplify or speed up the process, both of which would be advancement in treating MS.”
He noted that the earlier MS is treated, the better the outcome.
While the test did well in trials with MS patients, the real crux is how will it perform in the broader population.
In order for the test to be truly effective, Bebo said it will need to help neurologists speed up the diagnosis process. He added this test is not likely to "stand on its own" but would be used in conjunction with other diagnostic tools.”
The blood test works by detecting patterns in RNA.
RNA-based research in 2013 successfully identified profiles in people with MS.
Once the profile was identified, an algorithm was created to find a pattern of molecules specific to diseases like MS.
It’s this proprietary algorithm that lead to $4 million in funding from the National Institutes of Health (NIH) as well as significant private investment for IQuity’s blood test.
Optimism for the future
While the new IsolateMS test will have much to prove after hitting the market, those connected with MS are generally excited about where things are now vs. 20 years ago.
There are currently 15 disease modifying drugs (DMDs) for MS, all developed in the past two decades.
Last month, the first drug for primary-progressive MS (PPMS) was approved by the Food and Drug Administration (FDA).
The landscape continues to change for those with the disease.
Dr. Chase Spurlock, founder and chief executive officer of IQuity and co-inventor of the new test, is hopeful about the future of MS medicine.
Spurlock started work on his project during his time at Vanderbilt University, hitting critical mass in 2013. IQuity formed in 2015.
While the test does not differentiate between relapsing-remitting MS and PPMS, it is designed to find general patterns for diagnostic purposes.
Currently the clinical criteria to differentiate between types of MS has not been 100 percent codified, Spurlock said, but the ability to accomplish this is in the future.
“The future holds many opportunities,” Spurlock told Healthline. “RNA patterns change in response to stimuli, such as a possible viral response.”
He added that figuring out the first event that leads to an illness would be significant in preventing and stopping progression.
This test could eventually help doctors decide the best treatment for a person with MS.
Spurlock suggested in the future doctors will be able to “look at an RNA profile or molecular picture and decide on the first day what’s happening, and would they be better on one therapy vs. another.”
Both Bebo and Spurlock shared the importance of early diagnoses and treatment as supported in the international consensus recommendations of 2016: Brain health: Time matters in multiple sclerosis.
IsolateMS does not need approval from the FDA because it is marketed and sold as a laboratory-developed test under The Clinical Laboratory Improvement Amendments (CLIA) law.
Spurlock says the NIH funding “allows us to throw a foot on the gas in moving forward.”
Editor’s Note: Caroline Craven is a patient expert living with MS. Her award winning blog is GirlwithMS.com, and she can be found @thegirlwithms.