Biomarkers: Using the Body’s Biological Signals to Understand a Disease and Develop New Treatments

This is a contributed post from Vigil Neuro, a member of Global Genes’ Corporate Alliance.

At Vigil Neuro, we are looking for the most efficient way to develop novel treatment options, because people living with ALSP cannot wait.

ALSP, or adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, is one of the many rare diseases without any approved treatments. The genetic mutation that most often causes ALSP – found in the CSF1R gene – was only discovered in 2012, meaning there are still gaps in our understanding of the disease and its common traits. We are working with the ALSP community to bridge those gaps and develop a treatment option that is both safe and effective.

There are countless ways to measure a treatment’s effect and they can range from simple to complex, some measure clinical functioning, others are called biomarkers. Biomarkers, short for biological markers, are signals that can tell us what is happening in the body, and they can be measured and tracked. For example, when you have a temperature of 103 degrees, that temperature is a biomarker for an infection. Doctors take your temperature to keep track of your body’s response; when it starts to go down, they know the body is beginning to recover.

Not all biomarkers are as easy to detect as a fever, but they can be just as helpful for understanding a disease. Doctors and researchers use biomarkers to help them understand disease specific signals that may not be felt or noticed by a patient or care partner. Biomarkers are especially useful in rare diseases and help us understand how a disease progresses without treatment.

Biomarkers not only provide valuable insights into a disease, but they also contribute to the development of treatments. We learn about biomarkers through natural history studies which are sometimes called observational studies. Regulatory agencies, such as the FDA, rely on these studies and the data they produce to understand the disease. In some cases, biomarkers are used to compare untreated disease progression with an experimental treatment in a clinical trial. We partner with the community so we can connect the dots between the biology of ALSP and the lived experience from people with ALSP.

Vigil only makes up half of the team required to develop a treatment. We rely on the ALSP community for input, support, and participation. The patients and care partners we’ve worked with so far have helped us initiate the first-ever ALSP natural history study, ILLUMINATE.

Dr. Jennifer Orthmann-Murphy explains that natural history studies like ILLUMINATE are so important because they provide a means of studying “the course of rare diseases like CSF1R-ALSP,” and “they help us answer questions asked by patients and family members about prognosis.”

The ILLUMINATE study has confirmed and broadened our understanding of ALSP, which in turn supports the larger ALSP Community. “Participation in a natural history study has been a huge benefit to my family. It has helped identify family members who had the condition as well as those who are at risk,” confirmed a care partner to a study participant. They went on to say that “even more importantly, ILLUMINATE has paved the way for participation… in clinical trials, which have brought new promise and hope to me and my family.”

“Natural history studies enable identification of key biomarkers… this is critical for disease-modifying drug development,” Dr. Orthmann-Murphy went on to explain. It is because of each and every study participant and their family members that we are collecting important data about ALSP and its biomarkers. ILLUMINATE has helped us identify the biomarkers we’ll be using in our interventional Phase 2 clinical trial, IGNITE in patients with ALSP. Measuring the outward signs and symptoms of a disease like ALSP takes years, but if we can track the changes in ALSP-specific biomarkers, we hope to detect signals earlier.

Biomarkers play a critical role in the drug development process with impacts across multiple phases from beginning to end, as shown below.

To learn more about ALSP, what causes it, the common symptoms, or meet some members of the community, please visit our disease education site www.alspinfo.com.

If you are interested in participating in research studies, visit clinicaltrials.gov.

If you are interested in learning about the no-cost, confidential, genetic testing, and counseling services available for the ALSP community, visit informeddna.com/ALSPAware.