What is the NSP?
The NSP, or “Neurofilament Surveillance Project,” is an observational study for members of families that have a mutation in one of the three major genes that causes familial frontotemporal lobar degeneration (FTLD).
These genes are: progranulin (GRN), microtubule associated protein tau (MAPT) or chromosome 9 open reading frame 72 (C9orf72).
latest study news
02/01/2024 - NSP study is fully enrolled!
Thank you to everyone who has enrolled in the study and those who have supported participants.Want to follow study news and updates?
Follow the NSP twitter feed at @NSPstudy
What does the study look at? Why should I participate?
Key to the fight against any disease is first determining how to identify it. And second is knowing how and when to intervene. At the present time, the only way to know when someone has FTLD is an in-person clinical diagnosis. But by the time clinical symptoms can be observed, it may be harder for treatments to be effective. Ideally, treatments could be administered before someone with an inherited mutation develops FTLD symptoms. Our study will help understand whether blood biomarkers might reveal molecular changes in the brain even before clinical symptoms manifest.
While there are currently no approved drugs to treat FTLD, companies and researchers are racing to develop therapies. Participants in this study will play a vital role in helping future treatments be used when they could truly help the most.
Am I eligible?
The NSP study is fully enrolled and we are not inviting new participants at this time. You were able to join the NSP if you or a relative has a mutation in GRN, C9orf72, or MAPT. You do not need to know if you carry a mutation yourself. The study will enroll persons at risk for genetic FTLD. The NSP is a sub-study of ALLFTD; to participate in the NSP, you must also already be a participant in ALLFTD.
How does it work?
There is no need to make additional visits to a hospital or clinic to participate in this study. You will enroll during your in-person ALLFTD visit or remotely.
Trained nurses will come to your home or any location of your choosing to perform a simple blood draw once every 3 months. You may schedule your visit at a time convenient to you, Mondays through Saturdays before 3pm. After 3 years, your part in the study will be done.
These visits will happen in a way that is convenient and safe for you. Your health and safety will be of the highest importance throughout this study. You can learn about measures we are taking for safety regarding COVID-19 here.
NSP visits will happen every three months, while your ALLFTD visits will happen once a year.
Benefits and Risks
This study does not involve administration of an investigational therapy, so the risks are expected to be very low. The blood draw that happens in this study is similar to any other blood draw that you may have had. Similar to other blood draws, you may experience bruising and pain. Some participants may experience discomfort at watching their blood being processed, but you are not required to watch the processing.
Participating in this study is not expected to benefit you directly. However, your participation in this study will help researchers learn more about the usefulness of neurofilament light chain as a biomarker. In addition, your participation may help other people who develop FTLD in the future.
NSP Fact Sheet
Remote Visit Safety Information
NSP Informational Brochure
STUDY SITES AND CONTACT INFORMATION
California (San Francisco): University of California, San Francisco - Dilanaz Unal, 415.502.7518, Dilanaz.Unal@ucsf.edu
Florida (Jacksonville): Mayo Clinic - Kandise Chrestensen, 904.953.4107, Chrestensen.Kandise@mayo.edu
Minnesota (Rochester): Mayo Clinic - Breanna Bruender, 904-953-4215, bruender.breanna@mayo.edu
Maryland (Baltimore): Johns Hopkins University School of Medicine - Ann Fishman, 410-502-5816, ann.fishman@jhu.edu
Massachusetts (Charlestown): Massachusetts General Hospital - Gent Celaj, gcelaj@mgh.harvard.edu
Missouri (St. Louis): Washington University in St. Louis - Tina Nolte, nolte.tina@wustl.edu
New York (New York): Columbia University - Arlene Mejia, 212-305-9168, am4717@cumc.columbia.edu
Pennsylvania (Philadelphia): University of Pennsylvania - Study Coordinator, Julia Kwiecinski, Julia.Kwiecinski@pennmedicine.upenn.edu
FAQ
What is a biomarker?
“Biomarker” is short for “biological marker.” A biomarker is something that can be objectively measured to provide information about normal or abnormal function of the body or the state of a condition or disease.
What does Neurofilament light Chain tell me about disease?
A neurofilament is a part of a neuron that is made up of proteins including neurofilament light chain.
Neurofilament light chain (NfL) is a protein found inside neurons in the brain. The levels of NfL are low in the blood of people who do not have neurodegeneration or traumatic brain injury. If axons die, for example, during disease, NfL is released from the brain and can be measured in blood. Thus, rising levels of NfL in the blood may suggest increasing levels of neuronal cell death associated with neurological conditions. NfL is being explored as a biomarker in multiple conditions such as Alzheimer’s disease, stroke, multiple sclerosis and traumatic brain injury.
will my participation in the NSP affect my participation in ALLFTD?
No. Your participation in this sub-study will not impact your participation in ALLFTD. You must participate in ALLFTD to be eligible for the NSP.
Am I eligible for the NSP sub-study?
In order to participate in the NSP, you must be aged 18-85 and enrolled in ALLFTD. You must be a member of a family with a known mutation in C9orf72, GRN or MAPT. You do not need to know if you carry a mutation yourself. The study will enroll persons at risk for genetic FTLD. You must be willing to comply with all study procedures and be available for the duration of the study.
If you have a permanent contra-indication to repetitive blood draws, such as poor venous access, or, if your study doctor believes that participation is not in your best interest, you will not be eligible for the study.
DO I NEED TO KNOW MY MUTATION STATUS TO JOIN THE STUDY?
You do not need to know if you carry a mutation yourself. The study will enroll persons at risk for genetic FTLD, those who are members of a family with a known mutation in C9orf72, GRN or MAPT.
HOW LONG WILL THE VISIT TAKE?
Most visits are expected to take about one hour, although up to three hours is allowed in the informed consent form in case you need to share more information with the research nurse.
Where will tHE VISIT BE HELD?
Visits may be scheduled at your home, office, or any other location convenient for you. You can even request to have a single visit scheduled at a different place than where you normally have your visit, for example, if you are snowbird who lives in different places during different times of the year. Let your research nurse know if you may need to have a visit scheduled in a different location at least two months before the visit.
WHAT ARE YOU DOING TO PROTECT PARTICIPANTS FROM CONTRACTING COVID-19?
We have developed a comprehensive remote visit safety plan to protect our research nurses and participants from the transmission of COVID-19. The informational sheet shares details about this plan.
What will be done with my blood samples?
At the place where your blood is drawn (your home or other location), your blood will be spun in a small centrifuge to separate out the plasma, which is a liquid portion of blood that contains the NfL that researchers will measure. The plasma will be divided into smaller tubes and sent for evaluation or storage. One or more tubes will be tested for levels of NfL for the NSP study. Other tubes will be held in reserve for the Steering Committee of the NSP to potentially evaluate additional biomarkers. Lastly, some tubes will be sent to the National Centralized Repository for Alzheimer’s Disease, a national resource that stores biological samples and clinical information for future research use.
What will be done with the data obtained from my samples?
The data obtained from your samples will be coded, or deidentified, to protect your confidentiality. Deidentified data from the NSP ancillary study will be shared with the Neurofilament Surveillance Project Steering Committee, a precompetitive consortium that has funded the study. In addition, the data will be published after the conclusion of the study so that it is publicly available. Finally, the Bluefield Project to Cure Frontotemporal Dementia, the study sponsor, may use the data to qualify NfL as a biomarker with the United States Food and Drug Administration.
How will you keep my information confidential?
At all times, your name and any other identifying information will be kept confidential. Only the study site where you enrolled and the researchers who coordinate and conduct the visit to your house will know your identity. All NfL data or associated study data will be coded, or deidentified, to protect your confidentiality.
