Biomarkers in MS

Biomarkers are measurable substances in your body that can be gauged through tests such as blood tests, spinal fluid tests, and imaging. Tracking and understanding these biomarkers can help your neurologist diagnose and manage your multiple sclerosis. Biomarkers provide data that can help neurology providers identify MS earlier, track progression, and help determine response to treatment. MRI and spinal fluid analysis have been used for many years to aide in early and accurate diagnosis. In addition, MRI is used frequently to track changes in your MS and determine your response to MS disease modifying therapies.   

Over the past several years, serum biomarkers (substances identified in the blood) can be measured and therefore help with ongoing MS disease monitoring.  In addition, biomarkers identified in the spinal fluid may be more practical to analyze and may provide improved accuracy when making an MS diagnosis. Below are biomarkers that may be helpful in diagnosis, identifying MS activity and predicting MS progression. Alone, these biomarkers are not able to make a diagnosis of MS. However, in combination with other tests such as MRIs, they may provide better information to your MS provider.    

Types of Biomarkers

1. Kappa free light chains – Analysis of the spinal fluid is commonly used when the central nervous system is thought to be the source of a person’s symptoms.  Analysis may include measuring cell counts, checking for infection, and identifying any inflammation. The most common biomarker in the spinal fluid associated with MS, known as oligoclonal bands, or OCB’s. OCB’s are proteins that indicate inflammation in the CNS. A new biomarker called kappa free light chains have been investigated as a new and potentially better biomarker in the spinal fluid. Kappa free light chains are proteins, and when found to be elevated in the spinal fluid, may be a more accurate and less expensive indicator of multiple sclerosis than the OCB’s.  
2. Serum Neurofilament Light Chain – One biomarker that has been identified in the blood is called neurofilament light chain, or NfL. NfL is a protein that helps to provide support to nerves in the brain and spinal cord.  When measured in the blood, NfL is known as serum NfL, or sNfL.  If there is damage to the nerves in your central nervous system, NfL is released into the spinal fluid and the bloodstream. Measuring the amount of sNfL can indicate damage to the nerves in the CNS.  This information can be helpful in understanding your disease activity. See the graphic developed by The MS Coalition to better understand this biomarker. 
3. OCTAVE – Octave Multiple Sclerosis Disease Activity (MSDA) Test – The Octave MSDA Test is a multi-biomarker blood test developed by Octave Bioscience. It measures 18 biomarkers biologically relevant to MS and uses an AI-driven algorithm to generate results. These results include a disease activity score and pathway-specific scores reflecting immune activity, inflammation in the central nervous system (CNS), and myelin and nerve fiber integrity.  The test is available in all 50 states and is performed in Octave’s CLIA-certified, CAP-accredited, and New York State CLEP-approved clinical laboratory. 
4. Glial Fibrillary Acidic Protein – Astrocytes are cells within the CNS that have been identified as part scar formation but also are involved in inflammation and nerve damage.  Glial fibrillary acidic protein or GFAP is expressed on astrocytes and can be measured in the spinal fluid and in the blood (serum).  Higher serum GFAP levels have been found to be associated with MS disease progression.  While not currently used routinely in clinical practice, GFAP levels may be predictive of MS disease progression. 

Biomarkers and Diagnosis

The use of current biomarkers and the future addition of new biomarkers may aide in making a timely and accurate MS diagnosis. They also may help you and your MS provider better understand your disease activity.  Biomarkers may support you and your provider in developing a more personalized treatment plan based upon your disease activity.  Currently, tests such as serum NfL and the Octave test may be used in conjunction with MRI and clinical findings on neurological exams to better understand your MS disease process. Other biomarkers under study may soon be added to the tests done as part of the MS diagnostic process and monitoring your disease activity over time.  Ask your MS provider about biomarkers to learn more.