Biomarkers Consortium – Neurofilament as a Blood-Based Biomarker of Neurodegeneration in Familial Frontotemporal Degeneration (FTD)

The Problem
The earliest stages of FTD are hard to detect until the disease has progressed and damage is more permanent. Experts believe that finding a cure requires treatment before FTD disrupts day-to-day activity.
The Solution
The project will identify reliable blood tests to detect FTD and give access to disease-modifying clinical trials. A solution to this problem in FTD unlocks these tests for other neurodegenerative diseases.


Frontotemporal degeneration (FTD) impacts the frontal and temporal lobes of the brain and is the most common form of dementia for people under 60. As their brain structure and function deteriorate, individuals may start losing control of their own behavior, experience limitations in speaking and understanding, or find it difficult to perform movement in their day-to-day activities. In addition to the multiple ways that symptoms can occur, the rate of symptom progression can vary significantly. Unfortunately for some, FTD begins in their 30s, dramatically disrupting their life trajectory. At present, there is no treatment or cure for FTD.

While the main cause of FTD is unknown, many people with the disease accumulate abnormal proteins which clump together in brain cells called neurons. When a neuron is damaged or dies, neurofilament (a normal protein component of the neuron) is released and the level of neurofilament increases in both cerebrospinal fluid and blood. Recent studies indicate that this increased neurofilament in the blood is a promising marker of the earliest stages of neurodegeneration. The ability to measure these forms of neurofilament will help identify when someone is at risk of developing symptoms, especially in people with genetic markers for rare neurodegenerative diseases such as familial FTD and amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease, a biologically related disease to FTD which this project will also examine).

Novel technological advances now present an opportunity to measure neurofilament light. This project will evaluate whether these affordable and scalable blood tests are robust enough to confirm that blood levels of neurofilament light can be used to determine the likelihood of FTD. Additionally, this project will advance new quality control materials to enable the standardization of measurements and interpretations across the blood tests over many years. Ultimately this will support clinical decision-making and accelerate the vitally needed development of therapeutics for patients with FTD and other rare neurodegenerative diseases.


  • Evaluate next generation neurofilament assays to determine whether blood measures of neurofilament light are reliable in detecting the earliest rise in neurofilament.
  • Advance the regulatory qualification of neurofilament light as a biomarker to identify people at risk of FTD due to genetic and family connections and enable their participation in clinical trials of new therapies.

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