Can Providers Predict Which Patients Will Respond to Multiple Sclerosis?

Genetic variant found to be associated with the likelihood of patient response to interferon-beta.

Researchers recently discovered a genetic variant that regulates the development of specific immune cells that play a vital role in multiple sclerosis (MS) disease activity and is associated with the likelihood of patient response to interferon-beta.

Following the initial diagnosis of MS, it is critical for providers to identify the most effective drug to improve the long-term outcome for patients while moving toward a personalized treatment approach, the study noted. However, certain MS patients still experience disease activity despite treatment.

Researchers sought to find predictive indicators of response to treatment through a genome-wide association study of MS patients in hospitals in the United States and Europe, all of whom were receiving interferon-beta therapy.

The researchers discovered that the variant most predictive of patient response to the drug was found in the gene SLC9A9.

"This study highlights the fact that genetic variation has a role in the course of a patient's disease in MS, but that this role is modest and will require much larger studies to be understood in detail," researcher Philip De Jager, MD, PhD, said in a press release. "We need to expand this type of international, collaborative science."

Initially found in Italian patients, the observation was replicated in patients in Boston and France.

"Further work is now needed to validate our results in other collections of patients, particularly patients treated with other MS medications, to evaluate whether the effect of the genetic variant is limited to interferon beta treatment or is relevant to other clinical MS treatments," said researcher Filippo Martinelli-Boneschi, MD, PhD, in a press release.

This variant was found to have an established but weak role in MS. The loss of the SLC9A9 gene, however, was found to increase the likelihood of immune cells provoking damaging reactions.

"Manipulations of this gene in mice and in human cells will lead us to better understand mechanisms that are involved in the autoimmune response that causes MS," investigator Wassim Elyaman, PhD, said in a press release.