Researchers hoping to better understand what happens in the brain before people with familial FTD develop symptoms have identified a potential biomarker to detect changes that could help indicate disease onset.

In a recently published study, researchers tested asymptomatic carriers of the C9orf72 mutation using a number of biomarkers, including PET scans, clinical and neurological examinations, and other screenings, to try to identify changes that could help indicate the potential onset of symptoms. Recognized as the most common genetic cause of both hereditary FTD and ALS, the C9orf72 mutation may cause either or both conditions in carriers, but it is still unclear as to what determines that development.

In analyzing PET scans, researchers observed lower rates of glucose metabolic activity, or glucose hypometabolism, in certain areas of the brain in participants carrying the C9orf72 mutation, as compared to those without. While still preliminary, the findings could help to advance the search for biomarkers to better detect and diagnose FTD in its early stages.

“For people living with a C9orf72 mutation, we desperately need imaging and fluid biomarkers that tell us when changes associated with the disease are beginning to be detectable in the brain,” said Bradford Dickerson, MD, FAAN, director of the frontotemporal disorders unit at Massachusetts General Hospital and chair elect of AFTD’s Medical Advisory Council, in a news release. “Biomarkers like glucose hypometabolism that tell us that the brain is not functioning normally will hopefully then be useable to measure whether treatments could stabilize or improve brain function. We are now designing clinical trials and need more biomarkers like this.”

As FTD science continues to evolve, researchers are working to design clinical trials that rely on the use of biomarkers, such as brain changes indicated by PET scans, that could aid researchers in identifying future study participants, monitoring response to treatment, and determining treatment side effects. The genetic and biological overlap between FTD and ALS presents a unique opportunity for researchers; earlier this year, AFTD announced a groundbreaking strategic partnership with Target ALS to spur the discovery of biomarkers and viable treatments for the two diseases.

To read more about the recent research findings, click here.