FNIH Biomarkers Consortium Launches a Project to Detect the Earliest Changes in Rare Neurodegenerative Diseases
February 28, 2022 – The Foundation for the National Institutes of Health (FNIH) Biomarkers Consortium has launched a new project that will identify the best blood tests to measure a protein that is instrumental in the early detection of rare neurodegenerative diseases. The “Neurofilament as a Fluid Biomarker of Neurodegeneration in Familial Frontotemporal Degeneration (FTD)” project will confirm that one or more blood tests for this protein, called neurofilament, can be used to identify people at risk of FTD due to genetic and family connections. This is a critical first step in establishing a reliable, cost-effective and non-invasive tool to better predict FTD. People at risk will then be able to participate in clinical trials of new therapies, ultimately leading to treatments where none currently exist.
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, the level of neurofilament (a component of the neuron) 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 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 through blood tests. This project will evaluate whether these affordable and scalable blood tests are robust enough to confirm that blood neurofilament levels can be used to determine the likelihood of FTD. Ultimately this will support clinical decision-making and accelerate the vitally needed development of therapeutics for patients with FTD and other rare neurodegenerative diseases.
This two-year project brings together the expertise of 19 partner organizations from government, academia, industry and non-profit and patient advocacy organizations. The private-sector partners have contributed approximately $2.1 million, making this vital project possible.
- Food and Drug Administration
- National Institute on Aging
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- Mayo Clinic
- Paris Brain Institute (ICM)/ AP-HP Pitié-Salpêtrière Hospital
- The Robert Packard Center for ALS Research at Johns Hopkins
- University of California at San Francisco
- University of Gothenburg
- VU University Medical Center
- Alector, Inc
- Biogen MA Inc.
- Diagnostics Accelerator at the Alzheimer’s Drug Discovery Foundation
- Otsuka Pharmaceutical Development & Commercialization, Inc.
- Rainwater Charitable Foundation
- The ALS Association
- The Association for Frontotemporal Degeneration
- The Bluefield Project to Cure Frontotemporal Dementia
About the Biomarkers Consortium:
The Foundation for the National Institutes of Health’s Biomarkers Consortium (BC) embraces government, industry, patient advocacy groups, and not-for-profit organizations to address one of the most pressing needs in the diagnosis and treatment of disease: the development and the seeking of regulatory approval for disease biomarkers and surrogates. The core operations of the Biomarkers Consortium are supported through the contributing membership program. Organizations representing private industry (including the pharmaceutical, biotechnology, diagnostics, and information technology industries) and not-for-profit organizations (including associations, advocacy groups, trade organizations, and philanthropic organizations) that wish to support biomarkers development are eligible to become contributing members.
About the Foundation for the National Institutes of Health:
The Foundation for the National Institutes of Health (FNIH) creates and manages alliances with public and private Institutions in support of the mission of the NIH, the world’s premier medical research agency. The Foundation, also known as the FNIH, works with its partners to accelerate biomedical research and strategies against diseases and health concerns in the United States and across the globe. The FNIH organizes and administers research projects; supports education and training of new researchers; organizes educational events and symposia; and administers a series of funds supporting a wide range of health issues. Established by Congress in 1990, the FNIH is a not-for-profit 501(c)(3) charitable organization.