Lupus Heterogeneity and the complexity to find a cure
When people find out I have Lupus and get to know a bit of the condition, many questions come to mind. After learning about causes, diagnosis, symptoms, and flares, they become interested in treatment and cure.
It also happened to me when I received my diagnosis: why is Lupus so tough to treat? Why is it so difficult to test possible new treatments in a clinical trial? Why are so many people needed for a clinical trial to prove effectiveness?
The answers lie at the core of Lupus – its heterogeneity – the fact that it affects each person differently and symptoms fluctuate even within the same person. While one woman may have joint pain and fatigue, another may have those symptoms along with skin rashes, fevers, and high blood pressure. And for her dad, symptoms may come and go with permanent damage to his kidneys.
This heterogeneity means that specific treatments may only work for particular patients—one treatment is unlikely to be effective for such a variety of symptoms and causes. Knowing more about it, the disease’s diversity will allow researchers to design new drugs that target specific groups of patients.
In 2008, the leading lupus researcher Dr. Virginia Pascual and her colleagues set the stage for understanding the diversity of the disease by introducing a new approach investigating how the immune system works in patients with Lupus that involved analyzing the activity of different genes.
Pascual and her team took the results further in a groundbreaking 2016 study in which they identified which genes were active in blood samples from 158 children with Lupus. They determined that based on these genes, patients could be separated into seven groups. This finding may enable scientists to tailor treatments for each group.
At a Lupus Research Alliance article, I read that researchers are using the latest technology to identify distinct and shared pathways that control cells and cause disease in people with Lupus.
And their funded researchers are also working on identifying several novel biomarkers for Lupus – substances in the body that suggest the presence of disease. Knowing these markers for Lupus, which likely vary from person to person, may simplify the interpretation of data from clinical trials and eventually help diagnose and monitor the disease activity.
Linking targets to patient heterogeneity to stratify people with Lupus will promote personalized treatments and successful clinical trials. An essential element to achieve this priority will be encouraging diverse populations to participate in lupus trials, particularly African American women who are disproportionately affected by Lupus.
If you are a Lupus patient, it is something to think about since we all hope to have more effective treatments and even a cure.
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