April 9, 2024 – A blood test could one day determine a multiple sclerosis patient’s likely disease path and suggest individualized treatment courses, new research suggests.
The study found that multiple sclerosis has three distinct subtypes based on immune markers in patient's blood, each with slightly different disease paths and responses to therapy.
With further study, determining a patient's blood "immune signature," or endophenotype, before starting immunomodulatory therapy may help predict clinical disease tracks and lead to more personalized treatment decisions, investigators said.
Knowing the specific immune signature of a patient’s disease at the time of diagnosis will help eventually to suggest the best course of therapy, said Heinz Wiendl, MD, professor and chair in the Department of Neurology at the University of Münster, in Germany. "This is a rational way of precision medicine for the future."
The study was published online March 27 in the journal Science Translational Medicine.
Degenerative and Inflammatory Subtypes
MS is a highly diverse disorder with different with different symptoms and disease trajectories, making it a challenge to manage. Whether this diversity is reflected by distinct immune signatures in the blood has been unclear.
To investigate, Wiendl and a team analyzed the properties of blood samples collected from 309 patients with early MS and a control group of 232 patients with early MS.
In both groups, they found that cellular immune signatures split into three distinct types, dubbed E1, E2, and E3.
The different subtypes were linked to different, distinct disease trajectories. E3 patients were more prone to higher inflammatory disease activity, as seen by a higher relapse rate within the first year.
E3 patients also had higher numbers of a particular kind of brain lesion, a higher rate of relapse and rapidly growing disability within 2 years.
E1 patients had more early structural brain damage and disease severity, including disability and impairment.
Toward Personalized Care
With further study and refinement, the hope is to make this test a "clinical reality," Wiendl said.
Kimberly O'Neill, MD, clinical instructor in the Department of Neurology at NYU Grossman School of Medicine in, New York City, said people with MS can have "a broad variety of disease course and outcomes ranging from mild to a very severe and life-altering disease course. At this point, we are not great at predicting who is going to be on which path and also which medication is right for each patient."
"Research like this gives us hope for a more personalized precision medicine in MS," said O'Neill, who was not part of the study. "The ideal world would be to have a blood test that could tell their disease course and which treatments will work for an individual patient, but we are certainly not there yet."
Also providing an outside perspective, Mary Rensel, MD, director of wellness and pediatric MS at the Cleveland Clinic Mellen Center for MS, said, "Precision medicine is our goal and dream in MS care — to be able to do a blood test and know what medicine a patient may or may not respond to and save them years of ongoing symptoms or the risk of disability. This study is a great start."
