About the GENFI study and what participating involves.
What is the purpose of the GENFI study?
The GENFI study aims to improve our understanding of genetic forms of frontotemporal dementia (FTD). Our goal is to identify the earliest signs of the disease and track how it changes over time. This research will help us determine the best timing for future treatments and measure how well those treatments work.
We rely on volunteers like you to take part in this research. Below, you will find all the information you need to decide if participation is right for you.
Who can take part?
- The GENFI study is for adults (18 years and older) who are part of a family with a known genetic mutation linked to FTD. This includes individuals who have been diagnosed with genetic FTD as well as their first-degree relatives.
- If you’re unsure whether you’re eligible or would like to talk about taking part, feel free to reach out to our team at genfi@ucl.ac.uk – we would be happy to answer any questions!
What happens during a research visit?
A research visit typically lasts one day (including breaks) and includes several assessments:
- Medical exam – The study doctor will carry out a short physical examination and cognitive test, as well as discuss your general health and any symptoms.
- Sample collection – A blood sample (from your arm), urine sample, and an optional lumbar puncture (spinal fluid collection) will be taken for analysis
- Cognitive assessments – You will complete a series of tasks designed to measure your memory, attention, language, and problem-solving. These may involve remembering words, recognising emotions in faces, or describing images.
- MRI brain scan – You will undergo a non-invasive scan that takes detailed images of your brain to help us detect any changes over time.
- Digital assessments – You will complete a series of iPad-based cognitive tasks, which can also be done remotely. Some sites may also use eye-tracking measures or wearable devices (like FitBits) to gather more data.
Example research visit schedule:
Your participation is voluntary – you can choose which parts of the study to complete. Let your study coordinator know if there are any assessments you would prefer to skip.
How does each test help our research?
- Why do we collect blood, urine, and spinal fluid? These samples allow us to measure biomarkers – proteins or other biological signals that indicate changes in the body. By studying these biomarkers over time, we can track how FTD develops and identify the earliest signs of the disease.
- How does this help research? If we can detect changes in biomarkers before symptoms appear, we may one day be able to develop treatments that slow or prevent the disease. These markers will also help us measure whether future treatments are working.
- Why is a lumbar puncture included? Spinal fluid gives us a clearer picture of what is happening in the brain compared to blood. The optional lumbar puncture helps us analyse proteins involved in brain function and degeneration. This is crucial for understanding FTD, as well as other neurodegenerative diseases like Alzheimer’s.
- Why do we do MRI scans? MRI (magnetic resonance imaging) allows us to create highly detailed images of the brain. In FTD, certain areas of the brain shrink or show changes before symptoms appear.
- How does this help research? By studying MRI scans over time, we can see which brain regions are affected first, how the disease progresses, and whether any treatments can slow down these changes.
- Why is this important for participants? While we do not provide individual MRI results, these scans are helping us build a better understanding of FTD. In the future, MRI could be used as a tool to diagnose FTD earlier and track treatment responses.
- Why do we test thinking and memory? FTD affects different areas of cognition, including memory, attention, problem-solving, and social skills. Measuring these abilities helps us understand how the disease impacts daily life.
- How does this help research? By tracking cognitive changes over time, we can identify patterns that indicate early symptoms of FTD. This will help improve early diagnosis and allow us to measure whether treatments are working.
- Why is this important for participants? These assessments provide insights into different aspects of your thinking and reasoning. While we do not provide individual results, understanding these patterns may help shape future clinical guidelines for diagnosing and managing FTD.
- Why do we use digital tools? Digital assessments, such as iPad-based cognitive tests and wearable devices (like Fitbits), allow us to collect data in a more precise and efficient way, as well as remotely.
- How does this help research? Digital tools can measure reaction times, track small changes in behaviour, and collect data continuously without requiring extra effort from participants. For example, Fitbits help us study sleep patterns, activity levels, and heart rate, which may reveal early disease-related changes.
- Why is this important for participants? These tools could make research participation easier and more accessible in the future. If we can measure cognition and brain function remotely, people may be able to contribute to research from home, reducing the need for in-person visits.
Each part of your visit plays a crucial role in advancing FTD research. Your participation helps us take important steps toward earlier diagnosis, better monitoring, and, ultimately, new treatments for FTD.
FAQs
- The GENFI study is aimed at adults (individuals aged 18 years and older) who are members of a family with a known FTD associated genetic mutation.
- After you enrol in the study, your blood sample will be tested for FTD-related genetic mutations. However, this is for research purposes only – you will not be told your results. If you wish to know your genetic status, the study team can guide you on how to access genetic counselling.
- Your genetic results are securely stored by an independent “genetic guardian” who keeps them separate from the research team. This ensures that your results remain private.
- The research team does not provide individual test results. However, if you have concerns about your cognitive health, we can refer you to the appropriate clinical services.
- No, all research-related expenses are covered. Travel and accommodation costs may also be reimbursed – please check with your local study coordinator.
- If you’re under 40, visits are scheduled every two years.
- If you’re 40 or older, visits are once a year.
You will be contacted well in advance to arrange your appointment.
- Yes! A one-hour lunch break is scheduled, and you are welcome to take additional breaks between assessments.
- You can withdraw from the study at any time, for any reason. This will not affect your medical care in any way.
- While you may not directly benefit, your participation helps advance our understanding of FTD and supports future treatments.
Interested in taking part?
Every participant in the GENFI study brings us closer to understanding genetic FTD, improving early diagnosis, and developing new treatments. If you or a family member have a known FTD-related genetic mutation and would like to contribute to this important research, we would love to hear from you at genfi@ucl.ac.uk.