Blood Tests of Neurofilament Levels as Early ALS, FTD Biomarker Sought

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by Mary Chapman |

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A two-year project aims to identify reliable blood tests for measuring neurofilament protein levels, which could aid in the early detection of frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS), and possibly other rare neurodegenerative disorders.

Neurofilament, a protein component of neurons, is released when these nerve cells are damaged by the abnormal protein clumping that marks both FTD and ALS.

The project, “Neurofilament as a Fluid Biomarker of Neurodegeneration in Familial Frontotemporal Degeneration,” was launched by the Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium.

It seeks to find affordable and robust blood tests that can identify people at risk of ALS and FTD due to genetics or family history.

FTD —  the most common cause of dementia for people under age 60 — is a disorder that can impact personality, behavior, language, and motor skills. While the research effort is primarily focused on FTD, this disorder and ALS share genetic causes and biological mechanisms, and its scientists will also investigate if neurofilament levels can identify those at risk of ALS.

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A collective effort, the project includes 19 partner organizations from government, academia, industry, and nonprofit and patient advocacy organizations. It’s supported by a $2.1 million investment from private-sector partners that include the ALS Association.

“Fluid biomarkers of neurodegeneration are urgently needed for ALS and other neurodegenerative disorders. The ALS Association is excited to work with FNIH and our other partners to explore the potential of neurofilament to meet this need,” Neil Thakur, PhD, the association’s chief mission officer, said in a press release.

“We are excited to be a part of the FNIH Biomarkers Consortium’s project as this will strengthen our efforts to identify the best blood tests to measure neurofilament and identify people at risk for FTD,” added Howard Fillit, MD, chief science officer and co-founder of the Alzheimer’s Drug Discovery Foundation.

The accumulation of abnormal proteins in nerve cells is a hallmark of both FTD and ALS. These protein clumps prevent the cells from working properly, causing damage and ultimately killing nerve cells.

However, ALS and FTD are difficult to detect early, before the disease has progressed and damage is evident. Markers that could allow for earlier diagnosis and a start to treatment are needed.

Neurofilaments are structural proteins in nerve cells that are released with cell damage into the cerebrospinal fluid (the liquid surrounding the brain and spinal cord) and the blood. These proteins are being widely investigated as early markers of neurodegeneration in diseases that include ALS and multiple sclerosis.

The project will evaluate whether affordable and scalable blood tests measuring two neurofilament proteins — neurofilament light chain and phosphorylated neurofilament heavy chain — are sufficiently robust to determine the likely presence of FTD or ALS.

Confirmation would inform clinical decisions and help to speed the development of treatments for people with FTD, ALS, and other rare neurodegenerative disorders.