More than 1200 clinicians, young investigators and seasoned researchers recently gathered at the ACTRIMS (Americas Committee for the Treatment and Research in MS) forum to consider what “precision medicine” would look like for people with MS.
The conference included a talk by the recipient of the Barancik Prize for Innovation in MS Research, Dr. Katerina Akassoglou, who described her series of discoveries that may ultimately lead to a therapy to stop MS damage and promote myelin repair.
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Precision medicine is an emerging concept that means using an array of information about an individual’s genetic background, environment, lifestyle and other factors to figure out a customized approach for the best possible treatment of a person’s health condition. With continued progress, for people with MS this could mean earlier diagnosis and specific ways to prevent, stop or even reverse their disease.
We’re still a long way from being able to take a blood or saliva sample, analyze it with advanced technologies, and come back with definite information on a person’s likely MS disease trajectory and the best treatment options to slow, stop or reverse it. But presentations showed important progress and highlighted challenges to overcome before precision medicine is perfected for people living with MS.
- Dr. Nikos Patsopoulos (Brigham & Women’s Hospital, Harvard) described progress in the discovery of gene variations that contribute to an individual’s risk of getting MS. Through the National MS Society-supported International MS Genetics Consortium, more than 200 gene variants have been uncovered. He noted that although we know almost half of the genetic drivers of MS, these aren’t yet useful for diagnosing MS. Researchers are working on building genetic signatures that may indicate how severe a person’s MS will be, and how they are likely to respond to a particular MS therapy. (Read the abstract)
One of the challenges in MS is how many different forms MS takes. It can be aggressive or mild, relapsing or progressive or both. Efforts are underway to tease out factors that distinguish one person’s MS from another’s, so that it will be easier to predict a person’s disease course and severity to help inform treatment decisions.
- An individual may be dealing with other disorders besides MS – such as high blood pressure or heart conditions – that can significantly impact their MS symptoms and progression. Dr. Ruth Ann Marrie (University of Manitoba, Winnipeg) summarized what is known about “comorbidities,” explaining that they can delay MS diagnosis and accelerate progression and relapse rates. Because people with comorbidities are usually excluded from enrolling in clinical trials, there’s insufficient information about how that therapy will impact their other conditions. Researchers hope that treating people’s comorbidities may also improve their MS. (Read the abstract)
- A person’s ethnicity/race also influences disease risk and course, explained Dr. Lilyana Amezcua (University of Southern California). She noted that African Americans have a significantly greater risk of getting MS than Caucasians, while Hispanics and Asians have lower risks. Social factors such as health literacy, community, poverty, lack of insurance and even illness beliefs can influence a person’s disease course and whether they take an MS disease-modifying therapy. Dr. Amezcua emphasized that a low proportion of minorities volunteer for clinical trials, so when a therapy is approved there is not enough information about its impacts in minorities. (Read the abstract)
The search for biomarkers
MS begins well before there are any signs of it. Since treating MS early is more effective, an important goal is to find better ways to detect MS and predict its course. There are efforts underway to search for better “biomarkers” – such as molecules detected in the blood, or MRI and other imaging -- that could facilitate earlier diagnosis, predictions about disease severity and course, and inform optimal treatment decisions.
Researchers are taking advantage of advances in technology to evaluate bodily fluids like blood and spinal fluid to capture complex snapshots of activity of the millions of cells, molecules, and messenger chemicals that are running the body in health and in disease. The idea is to capture specific MS profiles that could be used as detectors or predictors of disease activity. These include profiles of immune proteins and cells (
Read the abstract by Dr. Jeffrey Bennett, University of Colorado) and products of metabolism (
Read the abstract by Dr. Pavan Bhargava, Johns Hopkins University).
One fluid biomarker being explored in MS is “neurofilament light chain” – or NfL. It is a molecule that is part of the debris that enters the spinal fluid and blood when nerve wires (axons) are damaged – whether from head trauma, MS or some other disorders.
- Dr. David Leppert (University of Basel, Switzerland) showed how levels of neurofilament light rise with injury and fall with effective treatment. Now that NfL can be reliably detected not just in the spinal fluid but in the blood, it becomes more practical to conduct the further research needed to codify its use. With more testing, neurofilament light may be validated as a marker of treatment response in clinical trials and even in the doctor’s office. (Read the abstract)
Several presenters discussed advances in imaging biomarkers. MRIs are already used to help with diagnosis and detecting disease activity. But as the MRI machines get more powerful, they can see more details in scans of the brain and spinal cord.
- Dr. Tal Arbel (McGill University) described an international collaboration to use machine learning, also known as artificial intelligence, to analyze hundreds of MRI scans of people who had participated in MS clinical trials. The goal is to find imaging markers that will predict future MS lesion activity and disease progression, as well as response to treatment. (Read the abstract) This collaboration is supported by the International Progressive MS Alliance.
- Advances have also been made scanning the nerve layers at the back of the eye using optical coherence tomography (OCT). Dr. Shiv Saidha (Johns Hopkins University) showed evidence that certain features of OCT eye scans can predict MS disability 5 to 10 years later. (Read the abstract)
The presentations at this year’s ACTRIMS Forum hint at a future where data can be mined about an individual’s genes, the molecules their body is processing, the microbes in their guts, and many other factors, to create a sophisticated profile of that person’s unique MS and the best way to stop or even reverse it.
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summaries (abstracts) of the presentations