There are many opportunities for individuals at risk and affected by FAD to participate in research aiming to better understand the disease.
Longitudinal research studies involve individuals undergoing neurological, brain imaging and neuropsychological assessments at intervals of one to several years. In some studies, individuals may donate blood or cerebrospinal fluid (obtained from a lumbar puncture) for analysis. It is hoped that this work will improve our ability to diagnose the disease earlier, as well as track disease progression and assess any impact new therapies might be having on the degenerative process.
If you are interested in participating in research, you can find out about some current projects taking place at the Dementia Research Centre at UCL by visiting the research pages here.
In addition to the local FAD study at UCL, individuals may choose to participate in the multi-centre Dominantly Inherited Alzheimer Network (DIAN) study, which is recruiting individuals in sites across Australia and the USA, as well as here in the UK. You can find out more about the DIAN project here. The Dementia Research Centre, University College London (UCL), is also part of Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU). This is an international research partnership which is currently running a trial which focuses on drugs that could potentially change the course of the disease. The goal is to determine the safety, tolerability, and effectiveness of these drugs. More information about this trial can be found here.
Another project that individuals can participate in if they know they carry an FAD mutation examines stem cells, which can be generated from a tiny skin biopsy taken from the arm under local anaesthetic. This exciting new research aims to better understand the changes that these genetic mutations bring about at a cellular level.
Some people choose to contribute to research by registering to donate their brain after death. Brain donation can be a difficult subject to think about or discuss and is not something that everyone is comfortable to consider. However, many people feel positive to know that they will make this important contribution to research after they have gone. Studying the brains of people both with and without FAD mutations can provide invaluable information about why the disease develops.
The research projects that you choose to join may depend on how much time you have available for a research visit and which sorts of assessments you are happy to have. You can get detailed information about the various different projects and discuss your options by contacting a member of the research team on 020 3448 3193 or emailing Antoinette O'Connor, Clinical Research Associate.