Certified Reference Measures and Materials Needed to Enhance ALS Care, Biomarker Research

Biomarker exploration has been a crucial component of amyotrophic lateral sclerosis (ALS), explained Tania Gendron, PhD, assistant professor of neuroscience, Mayo Clinic. Data at the individual level has been lacking, Gendron noted, which creates additional challenges in patient care that clinicians and researchers are working to address.

This topic and more, including novel gene therapy research and influential policy, were explored at the 2025 Muscular Dystrophy Association Clinical & Scientific Conference held in Dallas, Texas.

This transcript has been lightly edited; captions were auto-generated.

Transcript

What are some of the significant challenges faced by clinicians looking to translate biomarker discoveries into their clinical practice, and what steps can be taken to overcome these obstacles?

From my perspective as a researcher and those of others, the majority of studies that have been examining newly identified candidate biomarkers do so by evaluating biomarker potential utilities using population cohorts. As an example, multiple studies, including my own, have evaluated use of blood neurofilament and other biomarkers as prognostic biomarkers, meaning a biomarker that predicts disease severity and progression, or as a susceptibility risk biomarker, meaning that it informs impending symptom onset in asymptomatic individuals at genetic risk of ALS. However, biomarker studies comparing population cohorts, as we do, for instance, if you want to compare healthy controls to patients with ALS, those population cohorts provide more robust data at the group level than they do at the individual level. As such, there is a need to validate these biomarkers at the individual level if they are to be in fact, used in clinical practice.

Biomarker measurements and patient fluids are usually a part of using assays or tests. However, one of the challenges here in implementing the biomarker to the clinical practice is that there are large variations in the results when using different tests due to a lack of standard standardization among them. An avenue that is being pursued to overcome this challenge is the development of reference measurement procedures and of certified reference materials that we hope will ensure equivalent results between methods and tests across sites.