The Bluefield Project to Cure Frontotemporal Dementia has launched the Neurofilament Surveillance Project (NSP) study which will measure blood levels of a protein called neurofilament light chain (NfL). This study began on August 24, 2020, and is recruiting members of families with genetic forms of FTLD.
As a new, four-year clinical study, NSP will gather information crucial to developing therapies for frontotemporal degeneration (FTD), also known as frontotemporal lobar degeneration (FTLD). The study plans to enroll up to 335 participants.
In order to enroll in this study, participants must be a member of a family with someone who has a disease-causing mutation in chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), or tau (MAPT). The participant does not need to have a mutation or know their own mutation status. Participants must also enroll in the ARTFL-LEFFTDS Longitudinal FTLD (ALLFTD) study to be eligible.
Participation involves a blood draw every three months for three years, for a total of 13 blood draws over the course of the study. An initial screening and enrollment may be done at the ALLFTD visit or remotely following ALLFTD enrollment, however blood draws and study questions are handled by a certified mobile research nurse and may be done at home, work, or other location.
This study does not involve a therapy, and the risks are low. Some participants may have side effects from the blood draw or discomfort from being asked questions about their well-being.
Participation in the NSP is not expected to benefit participants directly. However, they will help researchers learn more about the usefulness of biomarker studies for the future detection, treatment, and prevention of FTLD.
About the Study
The NSP is an ancillary study of the larger ALLFTD natural history study. ALLFTD is a comprehensive, NIH-funded study to characterize the natural history of FTLD in preparation for treatment trials. ALLFTD collects annual cognitive, imaging and behavioral assessment data, as well as blood and cerebrospinal fluid specimens. The ALLFTD data will be matched with NfL measurements to better define the changes that occur with FTLD onset and progression.
“This important longitudinal study is a critical adjunct to the ALLFTD natural history study. The NSP will help us understand how NfL levels change in individuals with FTLD-causing mutations as they convert from presymptomatic to symptomatic neurodegenerative disease,” noted Dr. Adam Boxer, Endowed Professor of the Memory and Aging Center at University of California, San Francisco, and a lead investigator for the ALLFTD study. “The insight we will gain into NfL’s value as an indicator of disease state will help support the development of vital therapies.”
NfL is a protein found inside neurons and normally not present in the blood of healthy individuals. As FTD symptoms begin, NfL levels in the blood increase. It is thought that the levels of this protein can act as a biomarker, or a biological marker, that may give scientists information about disease progression. The study will look to see how NfL reflects FTD disease state.
Although researchers are racing to develop therapies for FTLD, there is currently no approved treatment or cure for these rare, adult-onset neurodegenerative diseases that cause severe changes in an affected person’s personality, speech, or movement. FTLD is often misdiagnosed and underdiagnosed, affecting 5 to 22 of every 100,000 Americans. It comprises 10% to 20% of all suspected dementia cases.
These diseases have a genetic component in that approximately 25% to 40% of cases are inherited and occur within families. Inherited disease is usually caused by a mutation in one of the “big three” FTD genes: C9orf72, GRN or MAPT. Most therapies focus on genetic forms of FTLD because they provide a molecular entry route to understanding the disease. The rest of FTLD cases occur sporadically, without a known disease-causing mutation.
Individuals with genetic FTLD carry a disease-causing mutation from birth, but symptoms typically begin in middle-age. Identifying disease onset in time to respond is critical to testing potential life-saving therapies. By the time FTLD has progressed enough to be clinically diagnosed, there has already been a measurable amount of loss in brain mass. Once lost, brain mass can never be replaced. The NSP study seeks to find a cure for this devastating illness before brain damage progresses.
About the Study Funders
The NSP is funded and supported by a consortium of nonprofit foundations, small and large biotechs, and pharmaceutical companies exploring therapies for neurodegenerative diseases, in collaboration with academic researchers in the ALLFTD consortium. Study funders include: Alector, Arkuda Therapeutics, Biogen, the Bluefield Project to Cure Frontotemporal Dementia, Ionis Pharmaceuticals, Janssen Pharmaceuticals, Inc., Passage Bio, and UCB Biopharma SRL.
Funding is also provided by the Alzheimer’s Drug Discovery Foundation (ADDF) Diagnostics Accelerator in collaboration with The Association for Frontotemporal Degeneration (AFTD). The ADDF's Diagnostics Accelerator is a research initiative supported by leading philanthropic partners and organizations to accelerate the development of affordable and accessible biomarkers to diagnose Alzheimer's disease and related dementias, and to advance the development of more targeted treatments. To learn more about the initiative, visit the website.
Additional consortium members may join as the study proceeds.
About the Bluefield Project to Cure FTD
The Bluefield Project to Cure Frontotemporal Dementia is a 501(c)(3) nonprofit founded in 2010 to find a treatment or cure for FTLD caused by mutations in the progranulin (GRN) gene. It funds discovery, translational, and clinical research, and it partners with industry to accelerate the development of therapies. Bluefield-funded research has resulted in more than 130 peer-reviewed publications and catalyzed significant commercial interest in FTLD. The Bluefield Project also co-founded and provides ongoing support to the FTD Disorders Registry.
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