Emerging imaging and liquid biomarkers in multiple sclerosis

Abstract

The advent of highly effective disease modifying therapy has transformed the landscape of multiple sclerosis (MS) care over the last two decades. However, there remains a critical, unmet need for sensitive and specific biomarkers to aid in diagnosis, prognosis, treatment monitoring, and the development of new interventions, particularly for people with progressive disease. This review evaluates the current data for several emerging imaging and liquid biomarkers in people with MS. MRI findings such as the central vein sign and paramagnetic rim lesions may improve MS diagnostic accuracy and evaluation of therapy efficacy in progressive disease. Serum and cerebrospinal fluid levels of several neuroglial proteins, such as neurofilament light chain and glial fibrillary acidic protein, show potential to be sensitive biomarkers of pathologic processes such as neuro‐axonal injury or glial‐inflammation. Additional promising biomarkers, including optical coherence tomography, cytokines and chemokines, microRNAs, and extracellular vesicles/exosomes, are also reviewed, among others. Beyond their potential integration into MS clinical care and interventional trials, several of these biomarkers may be informative of MS pathogenesis and help elucidate novel targets for treatment strategies.

VISIBL-MS: A bilingual educational framework to increase awareness of early multiple sclerosis

“…12 Currently, several biomarkers for early detection are being studied, but there are many unsolved questions before clinical deployment. 13 These realities have led to several pressing goals to target unmet needs and gaps, including raising public awareness among patients, families, and early trainees including students, residents, and general neurologists. 14…”

Emerging biomarkers for improving pregnancy planning in multiple sclerosis

“…Interestingly, sNfL can also be used as a surrogate biomarker of MS activity during pregnancy and puerperium ( 9 ). On the contrary, blood glial fibrillary acidic protein (GFAP) is a biomarker of astrocytic damage, and its levels correlate with clinical disability and with lesion burden in MS ( 10 ). It was proposed that assessing both sNfL and GFAP may be useful for identifying different stages of MS and for predicting prognosis and treatment response ( 11 ).…”

Toward a serum biomarker of disease activity in Susac syndrome

“…NfL is a neuron‐specific cytoskeletal component that, when detected in serum, is a well‐recognized marker of neuroaxonal injury. GFAP is a cytoskeletal protein in astrocytes that serves as a serum marker of astrocyte damage and astrogliosis [6].…”

“…In MS, sNfL is thought to be a reliable marker of ongoing and future inflammatory disease activity at the group level. GFAP appears to be a better indicator of progression independent of relapse in MS [6]. Evidence suggests that combining measures of sNFL and GFAP improves the capability to predict confirmed disability worsening in MS [7].…”

“…Evidence suggests that combining measures of sNFL and GFAP improves the capability to predict confirmed disability worsening in MS [7]. A limitation to the application of serum biomarkers in MS and other disorders is that they can vary with factors such as age, body mass index, and smoking [6]. For this reason, the use of sNfL for monitoring of disease activity in individual patients has not yet been widely adopted in neurology, but there is optimism that serum biomarkers will soon become a part of routine monitoring of many neurological diseases.…”