Q&A: Rapid blood test could detect ALS within 2 days

Key takeaways:

• The new blood test aims to significantly shrink ALS diagnosis time.
• The blood test could be available in as little as 18 months.

A progressive neurodegenerative condition, ALS has no cure, with diagnosis often a result of protracted clinical evaluation that may take more than a year to accurately determine.

However, a breakthrough may be on the horizon with the development of rapid blood testing that specifically targets biomarkers indicative of the condition.

Healio spoke to Sandra Banack, PhD, senior scientist at Brain Chemistry Labs in Jackson, Wyoming, to find out how this latest development may lead to earlier detection and treatment of ALS.

Healio: What factors, both internally and externally, led to the company’s decision to pursue a blood test for ALS?

Banack: ALS is a rare disease with devastating medical implications and very little hope. We chose to tackle this problem to change patient outcomes, which is our primary goal as a not-for-profit discovery laboratory.

Currently, neurologists require evidence of progressive degeneration of upper and lower motor neurons in order to diagnose ALS. This takes time and a patient typically waits 10 to 16 months following symptom onset before receiving a positive diagnosis. This period of diagnostic uncertainty is difficult. We felt that our research in this area would make a real difference for patients, allowing for both positive and negative diagnoses much earlier.

Our laboratory research has led to the discovery of one cause of ALS, a naturally occurring environmental neurotoxin. From there, we discovered a potential way to slow disease progression, and the ensuing clinical trials gave us access to early-stage disease blood samples that we used to develop this test.

Searching for a diagnostic “fingerprint” in these samples was the next logical step.

Healio: Explain the mechanisms behind microRNA.

Banack: MicroRNA are small pieces of genetic material that primarily stop protein synthesis. By controlling the production of proteins, they can regulate cellular processes. miRNA can be found within extracellular vesicles (EVs) that are released directly from cells. By isolating the EVs and then purifying them to concentrate the EVs that originated from neurons, we were able to develop a window into the brain from a simple blood draw.

Healio: Describe how a unique “ALS fingerprint” can distinguish healthy from ALS-indicative blood samples.

Banack: We found that a combination of eight miRNAs could accurately and reliably differentiate the blood sample of a person with ALS from a healthy individual. We tested different algorithms to determine the sensitivity and specificity of the test and found the accuracy to be as high as 98%. This, in combination with standardized clinical criteria, has great promise to speed diagnosis and allow earlier treatment.

Healio: How rapidly could a blood test of this type indicate a possible ALS diagnosis?

Banack: The techniques we are using to diagnose ALS from a blood sample can be translated into a high-throughput test that most diagnostic labs have the capability to complete. Once the blood sample is received, it should take fewer than 2 days to return a result.

Healio: How quickly could the test become available to clinicians?

Banack: We developed this test and tested it extensively to demonstrate that it is robust, repeatable and accurate. Ideally, it would be used along with clinical criteria to reduce the time it takes to rule out ALS as a possible diagnosis or alternatively provide data to confirm a diagnosis. We are confident that a diagnostic lab will be able to take this research and make it available to patients and clinicians in about 18 months.

For more information:

Sandra Banack, PhD, can be found at Brain Chemistry’s website: https://brainchemistrylabs.org.

Reference:

Rapid new blood diagnostic test for ALS. https://www.eurekalert.org/news-releases/1057119. Published Sept. 13, 2024. Accessed Oct. 16, 2024.