Evolving MS Diagnostics From Categorical Classifications to Biological Phenotyping: Fred Lublin, MD

WATCH TIME: 5 minutes

"MS is one disease along a spectrum, and our task is to determine where each individual patient lies on that spectrum."

Current phenotyping in multiple sclerosis (MS) has largely revolved around clinical classifications, including relapsing-remitting, secondary progressive, and primary progressive forms based on the patient’s presentation of the disease. This approach, although useful, has limitations, as it does not fully capture the complexity and heterogeneity of MS. As a result, there is increasing interest in moving toward biological phenotyping, which aims to better understand the underlying mechanisms of the disease.

In line with this shift, recently presented diagnostic criteria for MS are evolving to incorporate more comprehensive, biologically-driven metrics. The latest updates from the new criteria allow for earlier diagnoses, including the identification of radiologically isolated syndrome, and introduce advanced techniques such as paramagnetic rim signs and central vein sign on MRI. These changes reflect the growing understanding of MS as a spectrum, emphasizing the need for more accurate and individualized diagnostic approaches.

This progression in diagnostic techniques also paves the way for more targeted treatments, such as Bruton’s tyrosine kinase (BTK) inhibitors, which have shown some promise in managing progressive forms of MS. These treatments, designed to target specific immune pathways, represent a shift away from traditional disease-modifying therapies and offer hope for better control over disease progression. As clinical trials and real-world data continue to unfold, BTK inhibitors may play a pivotal role in the future of MS management.

At the 2024 European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress, September 18-20, in Copenhagen, Denmark, MS expert Fred Lublin, MD, participated as a speaker in a scientific session on new phenotypes in MS. In an interview with NeurologyLive^® at the Congress, Lublin, director of the Corinne Goldsmith Dickinson Center for MS and the Saunders Family Professor of Neurology at The Icahn School of Medicine at Mount Sinai, discussed the evolving landscape of MS diagnostics. He highlighted the challenges and opportunities of implementing new diagnostic guidelines and the potential impact of advancements on early diagnosis and personalized treatment strategies in MS.

Click here for more coverage of ECTRIMS 2024.