The ALS Association (ALSA) has announced continued funding to support an ongoing consortium effort to find biomarkers that indicate the presence of amyotrophic lateral sclerosis (ALS, also called Lou Gehrig's disease).
The project has already produced a candidate panel of molecules in body fluids that differ between people with the disease and those who do not have ALS.
A predictive panel of biomarkers would allow rapid and accurate diagnosis for patients who often undergo months of tests and uncertainty before finding out whether they have ALS.
Investigators who are part of the consortium recently published initial findings on protein candidate biomarkers and plan to follow up to expand the number of samples tested and identify the marker molecules.
Biomarkers include proteins whose levels differ between the healthy and disease state. They also include the products of metabolism, small molecules that differ in the disease state as compared to healthy individuals.
“We are hopeful that biomarkers for ALS will also lead to new insights into the mechanisms of disease and help guide development of new drug therapies,” said Robert Bowser, Ph.D., University of Pittsburgh, an investigator on the project.
Study investigator Merit Cudkowicz, M.D. said, “Finding disease relevant biomarkers for ALS is important for several reasons. It will help us to understand disease mechanisms and also may provide a tool to allow more efficient and rapid testing of new therapies in people with ALS.”
The collaborating company, Metabolon, has identified 12 molecules that might serve as diagnostic markers for ALS.
“Data obtained in the first phase of this project demonstrates the power of metabolomics and how metabolomic technology can be used to generate biomarkers for disease diagnosis,” said John Ryals, Ph.D., president and CEO of Metabolon.
“These innovative studies will lead to novel diagnostic measures for ALS and identify potential therapeutic targets for drug design.”
Methods now available make it possible to analyze very small amounts of fluid. Charged surfaces of protein binding chips can separate all the different proteins found in the blood or the cerebrospinal fluid (CSF) that bathes the brain and spinal cord.
Investigators in the consortium use mass spectrometry to analyze proteins that bind to each chip surface and have determined that certain molecules are decreased in CSF in the disease, and others increase.
They found that a set of 19 proteins has potential as a biomarker panel for ALS.
The investigators will continue testing samples with a focus on CSF, since the highest level of biomarkers may occur there.
They will focus on biomarkers detected in ALS patients that have not received riluzole, since a diagnostic for ALS will likely be used for people not yet receiving an ALS medication.
Importantly, the researchers will seek the identity of the protein and metabolic biomarkers that appear to be specific to ALS.
This will help explain the molecular reasons for the disease and inform the search for potential drug treatments.