Familial Alzheimer's Disease (FAD)

• Nick Fox
• Natalie Ryan
• Xin Zhang
• Helen Rice
• Erinna Bowman
• Emily Goddard
• Phil Weston
• Dilek Ocal
• Celine El Baou
• Ollie Hayes
• Emily Abel
• Suzie Barker
• Millie Beament

Overview

The DRC has been conducting a longitudinal study into Familial Alzheimer's Disease (FAD) for over twenty years. 

Since participants at risk of developing the disease are assessed prior to the onset of any symptoms, we are able to obtain valuable information on the earliest signs of the disease. 

Additionally, by tracking individuals over many years, we gain insight into how the disease progresses.

This work will improve our ability to diagnose the disease earlier, track disease progression, and assess any new potential biomarkers. 

What’s involved

Participants come to the DRC to complete neurological, imaging, and neuropsychological assessments. We collect samples and ask about family trees and general health and wellbeing. Activities typically take place on an annual basis. 

Who can take part

We see individuals from families affected by FAD as well as individuals with no known risk of AD and those with a diagnosis of mild cognitive impairment (MCI) or non-autosomal dominant (“typical”) Alzheimer’s Disease.

We remain incredibly grateful to all the participants who have so generously contributed to this research. 

If you are interested in learning more, please contact us at uclh.fad@nhs.net.

Overview

The MEG study is a sub-study of our Longitudinal study of FAD. The purpose of this research is to measure directly brain activity in real-time to find biomarkers that would accurately reflect early changes in brain function in Alzheimer’s disease and relate those changes to symptoms. 
To do this, we perform a MEG scan to study unique patterns of magnetic waves made by the brain cells of a participant while they are performing different mental activities, e.g. viewing pictures, doing a memory game, and/or resting. 
The MEG scan is very safe as it is non-invasive, quiet, and does not produce radiation. Participants sit upright and interact with a computer during the scan. 

What’s involved 

The study involves two short sessions over two consecutive days. 

On day 1, there is a computer-based practice session (1 hour). 

On day 2, there is a MEG scanning session with the participant performing the same activity they practised on the previous day in the MEG scanner (total of 1.5 hours, including 30 minutes for preparation, 45 minutes for the MEG scan and 15 minutes for a debrief). 

For participant comfort, the 45-minute scan is broken into 6-7-minute blocks. 

We organise a repeat two-day visit approximately 12 months after the initial scan. 

Who can take part

We are currently recruiting from families affected by FAD and patients with mild cognitive impairment (MCI) due to sporadic (non-familial) Alzheimer’s disease.

Overview

The DIAN Observational study is an international collaborative research project studying FAD. There are 14 centres worldwide, including one here at the DRC. The aim of the DIAN Observational study is to look at changes that occur in the brain in FAD even prior to the onset of any symptoms, and on a larger scale than has ever been possible before.

What’s involved

For this study, in-person research visits are completed every other year. These involve a number of activities which help us to look at FAD from a number of different perspectives, including neurological examinations, psychology assessments, and imaging. We also collect samples and complete a lumbar puncture. In the interval year, visits are typically a brief telephone call.

Who can take part

This study invites people who are at risk of FAD (have a parent with the condition, but do not know their own genetic status), those who know they are carriers of a FAD gene, and those with symptoms of FAD to take part. 

DIAN-TU (Dominantly Inherited Alzheimer’s Disease/FAD – Trials Unit) is the clinical research arm of DIAN, and has just one research facility in the UK, based here at UCL. 

DIAN-TU’s primary goal is to implement effective, safe, and efficient clinical trials. Research within DIAN-TU is likely to advance a broader understanding of all types of Alzheimer’s disease with regards to causes, early detection, diagnosis, the effects of multiple classes of drugs, and the impact of treating Alzheimer’s disease early.

Click here to find out more about clinical trials at UCL.

Overview

The aim of the Fibroblast study is to investigate why brain cells generated from people living with Familial Alzheimer’s Disease behave differently to those from control participants to inform the development of future treatments.  

What’s involved

In this study we take a skin sample from the upper arm under a local anaesthetic.    

We use this skin sample to grow cell types from the skin (fibroblasts) in the laboratory. In a small petri dish, these cells are grown into stem cells and nerve resembling neurons in the brain.

Who can take part

This study invites people who know they carry the gene that causes FAD, those living with symptomatic FAD, and healthy volunteers (those not known to be at risk of FAD) to take part.

Click here to find out more Dementia Research – Brains in a Dish.

Overview

Magnetic Resonance Imaging (MRI) is a painless and safe technique used to obtain detailed pictures of the brain. MRI uses magnetic fields to generate the pictures, and unlike X-ray techniques, no ionising radiation used. 
This study aims to further our understanding of the earliest Alzheimer’s disease-related brain changes and to assess whether scanning at a higher MRI magnet strength can provide more precise and detailed information than the current standard.

This research uses a special type of MRI known as “ultra-high field MRI” or “7 Tesla MRI”. This means the scanner is using a stronger magnet to take images of the brain compared with the other routinely used MRI scanners, such as those found in hospitals. The reason for using this type of MRI is that it allows us to obtain much more detailed pictures at a much higher level of magnification, allowing us to explore specific changes in a way not previously possible.

What’s involved

The scan is very similar to having any other MRI scan. You will be lying down flat with your head held still. The staff member operating the scanner will speak to you every few minutes throughout the scan. The scan takes around 45-50 minutes in total.

We will invite participants to complete two scans, approximately 24 months apart.

 Who can take part

Anyone involved in our main Longitudinal FAD study is welcome to indicate interest in taking part. 

Before scheduling a scan, a researcher will check that you are suitable for scanning in the 7T MRI. They will ask a number of safety questions, including about previous operations you may have had.

Depending on answers to the safety questions, some additional information may be required before scheduling the scan.
Anyone interested in taking part, or who would like further information, should please contact Dr Phil Weston (philip.weston@ucl.ac.uk).

In later 2024, we will launch a sub-study focused on developing and using novel digital approaches to investigate and monitor early AD-related changes.  The sub-study will not require participants to come to a hospital or research centre for testing; activities can be undertaken when at home.

The study will use a test developed for mobile phones able to detect very early and subtle changes in memory, long before any symptoms develop. This information has the potential for aiding earlier diagnosis and for monitoring the beneficial effects of new drugs. The phone application (app) assesses how well one is able to retain and consolidate new information over a 7-day period — a longer period than we are able to assess in a clinic.

A key factor in retaining new memories, and something that can be disrupted early in AD, is the quality of one’s sleep. A second digital test, using a mat placed under the mattress, will allow us to monitor digitally sleep in a completely unobtrusive way, providing a wealth of data and potentially detecting subtle changes that would otherwise go unnoticed. This technology provides a potential new way to detect early changes in physiology and behaviour while people go about their daily lives, without study participants having to engage in any specific testing.

Anyone interested in taking part, or who would like further information, should please contact Dr Phil Weston (philip.weston@ucl.ac.uk).

Audition biomarkers in dementia: Improving diagnosis and Tracking disease evolutION 

Overview

The AUDITION study is a sub-study of the 'Brain signatures of auditory information processing study'. The sub-study has generously been funded by a Fellowship award from the Alzheimer’s Society to Dr Chris Hardy.

Lots of research suggests that there is a relationship between hearing loss and dementia, but the nature of this relationship isn’t understood: does dementia cause hearing loss? Or does hearing loss cause dementia? Or is it more complicated than either of those? This is indeed a complex area: we of course hear with our ears, but also hear with our brains – and research has shown that the brain areas involved in performing difficult hearing tasks (like focusing on one person speaking in a noisy room) are the same brain areas that are affected very early in dementias like Alzheimer’s disease.

AUDITION aims to unpack this relationship by asking people with, or at risk of, Alzheimer’s disease to have a detailed hearing assessment. Results from AUDITION will allow us to start to answer questions about the order in which hearing symptoms emerge, and whether or not specific tests that we know target ‘brain hearing’ might even be helpful in detecting the earliest brain changes associated with Alzheimer’s disease.

What's involved

If you agree to take part we will ask for you to undergo a detailed assessment of your hearing, including standard pure-tone audiometry (which assess how well your ears can hear simple sounds); and other tasks assessing how your brain analyses complex sounds. You may be asked to wear headphones to listen to the sounds. We have adapted many of these tests for use remotely via the internet, so you would not necessarily have to travel to the research centre to participate in this study. The entire set of assessements takes around an hour to complete.

As an example of the kind of thing you will be asked to do:

1. We have artificially distorted this spoken sentence so that it sounds very strange - have a listen by clicking here:         

2. You probably found that impossible - but now see what happens if you click below to reveal the words to the sentence

      3. Now if you listen to the sentence from Step 1 again, this should become a bit easier. This is because your brain has remarkably quickly adapted to the artificial solution.

Who can take part 

We are inviting the following people to participate in the sub-study:

• People who are at-risk of developing Alzeimer's Disease (AD) or Familial Frontotemporal Dementia (FTD) because a first-degree family member has a genetic form of either condition;
• People with a diagnosis of mild cognitive impairment; sporadic or FAD, sporadic or FTD, or related disorder. 

Please contact Dr Chris Hardy (chris.hardy@ucl.ac.uk) if you would like more information about the study or if you are interested in taking part.

The Queen Square Brain Bank for Neurological Disorders holds a unique archive of brains and tissue. These have been generously donated by individuals with and without a neurogenerative disease. If you’d like to talk more about this, please contact us at uclh.fad@nhs.net.

Rare Dementia Support offers specialist social, emotional, and practical support services for individuals living with, or affected by, a rare dementia diagnosis, including FAD.