Researchers Launched Study to Identify ALS and FTD Biomarkers
A new national study will track gene carriers to help identify early disease markers before symptoms appear.
Updated on Oct. 5, 2026 in Alzheimer’s
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The National Institutes of Health has funded a $26 million research project to identify biological indicators of ALS and FTD. Led by the University of Pennsylvania, the study will track 330 older adults carrying the C9orf72 gene variant over five years.
Why it matters
Previous clinical trials for these neurodegenerative conditions have often struggled because interventions started only after patients became symptomatic. This research seeks to establish biomarkers that detect disease progression early, potentially enabling future preventive treatments.
This five-year observational study will track 330 carriers of the C9orf72 gene variant who are aged 45 and older. Researchers will test five candidate biomarkers to determine their ability to predict disease onset, though the study remains in the preliminary research phase.
The players
National Institutes of Health
The primary federal agency responsible for biomedical and public health research in the United States.
University of Pennsylvania
A research university leading the study and investigating neurodegenerative disease pathways.
University of Miami
An academic institution collaborating on research into neurological conditions and genetic markers.
The details
The project will evaluate participants across 14 research sites using a combination of motor and cognitive testing, MRI neuroimaging, and body fluid analysis. By monitoring these metrics in people with the C9orf72 mutation, the team aims to identify patterns that emerge before ALS or FTD symptoms begin. These biomarkers could act as critical signposts for future clinical trials, allowing researchers to measure whether potential drugs effectively delay or prevent the disease process.
Timeline
Researchers plan to begin enrolling participants in December 2026.
The longitudinal study will take place over a five-year period.
Health Landscape
This project represents a significant shift toward identifying biomarkers for the C9orf72 gene variant, which is associated with heightened risks for ALS and FTD. It follows a historical pattern in neurology of moving from late-stage treatment to identifying pre-symptomatic diagnostic tools.
If you or your family members have a known history of ALS or FTD linked to genetic mutations, this study highlights the importance of discussing genetic counseling with your doctor. Identifying potential participation in research trials is a conversation to have with a neurologist specializing in neurodegeneration.
The takeaway
Early detection of neurodegenerative risks is a growing focus of medical research that aims to shift care toward prevention. Individuals with a family history of motor or cognitive decline should speak with a physician about the benefits and limitations of genetic testing for specific variants.
Further reading
Learn more about the latest research and diagnostic advancements in our Alzheimer’s section.
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Should medical research funding prioritize early disease detection over the development of later-stage treatments?
