A biomarker is a kind of biological “fingerprint” –something about a living thing that can tell doctors or scientists something about that organism. They’re extremely important in diagnosing and managing diseases. Some common biomarkers associated with diseases include blood glucose levels for diabetes or LDL cholesterol for heart disease. The search for more reliable biomarkers for diagnosing Amyotrophic Lateral Sclerosis (ALS) and measuring disease progression is one of the most vital challenges facing the ALS research community.
Today, doctors and researchers must rely on clinical observations and subjective questionnaires like the revised ALS Functional Rating Scale (ALSFRS-r) to track disease progression. The ALSFRS-r can be an effective tool, but is limited by the fact that it is a subjective measure of a person’s abilities – it relies on the observer’s assessment about how the disease is affecting a person’s ability to complete the tasks being evaluated by the survey.
Biomarkers and Clinical Trials
More reliable biomarkers would give individuals and their medical care teams a powerful tool to more accurately track ALS disease progression. Additionally, they would be enormously helpful for clinical trials. Many trials for ALS rely heavily on the ALSFRS-r to see if treatments appear to be having any effect – often using a slowing down or stopping in the decline of a subject’s scores as an important endpoint. A reliable biomarker or set of biomarkers could give researchers clear – and objective – measures to see if treatments are helping subjects.
There are many clinical indicators that are currently used in the diagnosis and treatment of the ALS – things such as respiratory function, MRI imaging of parts of the nervous system, the presence of proteins associated with certain genetic mutations, or even body weight. However, a biomarker that is used as an endpoint for a clinical trial in the US must go through a stringent validation process. While there are a handful of approved biomarkers available to ALS clinical researchers, and some other promising potential candidates, more are needed to provide robust alternatives to the subjective measures of the ALSFRS-r survey.
ALS TDI’s Work to Identify Potential Biomarkers
One of the most sought-after goals in ALS research is the discovery of a blood biomarker for the disease. Finding a blood biomarker – something in the blood that correlates to the presence and severity of ALS symptoms and rate of disease progression – could mean finally being able to put an objective measurement to these questions.
At the ALS Therapy Development Institute (ALS TDI) we are using our Precision Medicine Program (PMP) to partner with people with ALS all over the world to collect data and to search for potential biomarkers. These efforts include our first-in-kind In-Home Blood Collection program, which allows PMP participants to contribute regular blood samples by mail without leaving their homes. By studying these samples over time, we hope to identify more potential blood-based biomarkers that could correlate to disease progression.
To learn more ALS TDI’s efforts to find effective treatments for ALS, including our search for potential biomarkers, click here.