MS Patient, Ph.D.: Hoping New Biomarkers Make MS More Predictable
Recent research on various biomarkers might improve the accuracy of diagnosis, the accuracy of predicting progression to MS, and correct treatment choice
Patients are told that MS is unpredictable. It is something we learn firsthand, even before we get a clear-cut diagnosis. We are burdened with all-too-familiar and typical questions, such as: What disease do I have? Will I progress to clinically definite MS (CDMS), and if so, how quickly? Which treatments will work for me?
As a patient with only a single relapse, I hold onto the hope that I will be one of the 20% to 40% of patients (with lesions seen by magnetic resonance imaging) who will never experience another relapse. Barring that outcome, I would like to be reassured that I am taking the right combination of disease-modifying therapies that will hold off my next relapse for as long as possible.
It might not surprise you, then, that I am drawn to reading about research focused on striving to find better biomarkers to be able to diagnose and predict disease progression. I've highlighted here some recently published papers and some poster abstracts to be presented at the upcoming American Academy of Neurology meeting, which encompasses a wide range of neurology topics, not just MS, and is taking place in late April.
Fortunately, I had a quick diagnosis, so I didn't experience the uncertainty, delays, and anxiety that so many other patients go through. My physicians went above and beyond the revised McDonald criteria for diagnosis, using magnetic resonance imaging and blood and cerebrospinal fluid (CSF) tests.
Unfortunately, many people are misdiagnosed when only magnetic resonance imaging criteria are used. I am excited for new biomarkers in the works using less invasive samples, such as blood and tears, but they are not accurate enough to replace CSF yet.
Having a less invasive, but equally accurate, option will go a long way toward improving patient anxieties and discomfort during diagnosis. An unambiguous test might even improve accessibility to an accurate diagnosis without the need for an MS specialist (which otherwise might require travel or long waits for appointments). Alternatively, if 1 of these biomarkers could serve at least as a screen to avoid unnecessary need for CSF, the patient experience could be dramatically improved.
Conversion to CDMS
Because I likely have an accurate diagnosis, my main concern has shifted to wondering when I will have another relapse. I, similar to many other patients, already have had my CSF evaluated, but there is no consensus about its predictive capacity. One recent study showed that only 60% of patients with clinically isolated syndrome with positive oligoclonal bands (OCB) converted to MS. In addition, it is not a great predictor, as 20% of those without OCB also converted. This is helpful, but not conclusive, as another group found an inverse correlation between OCB and disease progression, so clearly more work needs to be done. Perhaps more valuable is an integrated model that better predicts conversion, taking into account CSF and the evoked potentials test.
Taking a different approach, there is a blood test to detect the presence of 20 genes that may predict those patients who will progress from clinically isolated syndrome to CDMS, although its specificity is unclear, as the researchers did not include a cohort of people with clinically isolated syndrome who did not develop MS. Using DNA from blood is more alluring than looking at the OCB present in the CSF because of the less invasive nature of a blood test.
I would be willing to do a blood or an evoked potentials test (something I haven't yet done), although definitely not another CSF test, if it could tell me if I am going to have another relapse in the next 5 years.
As a patient with relapsing-remitting MS, I am fortunate to have a variety of treatment options available to me. Knowing ahead of time that the injections will be not just painful but also effective in reducing relapse rates is invaluable. Various groups have tried to predict which patients would be responsive to specific disease-modifying therapies, such as interferon beta or glatiramer acetate. Now it's probable a patient will stay on a disease-modifying therapy for years (with the corresponding pain from needles and unpleasant adverse effects) without an improvement in relapse rate, lesions, or disease progression.
In the long run, predicting whether you will progress to MS or whether a certain treatment will work is not only more cost-effective but also saves the stress of going through a painful and potentially unhelpful treatment. My takeaway from these newly published studies and the abstracts is that there is a lot of progress being made in improving biomarkers to diagnose MS and predict the probability of progression or the effectiveness of treatment. Simpler tests would forgo relying exclusively on MS specialists to both perform and interpret the correct tests. In turn, diagnosis and treatment will be more accessible to all patients and increase the likelihood each patient is matched with an effective treatment.