Familial Alzheimer's disease (FAD) is a rare autosomal dominant form of Alzheimer's disease, generally affecting individuals below the age of 60. Children of affected parents have a 50% chance of developing the disease themselves - usually at a similar age to their affected parent. It was at UCL, in 1991, where the first FAD gene (APP) was found. During the last three decades FAD research at the DRC has contributed towards many advances. Research has accelerated significantly and now we have treatment trials that offer hope of slowing or preventing the onset of symptoms.
At the Dementia Research Centre, we see people with familial Alzheimer's disease as part of a several different studies that aim to improve out understanding of the disease and the early detection and monitoring of changes - all with the goal of finding effective treatments. These studies include:
- Longitudinal study of FAD
- DIAN-L Longitudinal study
- Dominantly Inherited Alzheimer’s Disease Network treatment trial (DIAN-TU)
- Fibroblast study
Longitudinal study of FAD
The Dementia Research Centre has been conducting a longitudinal study into familial Alzheimer's disease (FAD) for over twenty years. Individuals from families affected by FAD undergo annual neurological, imaging, and neuropsychological assessments. Since these participants are assessed prior to the onset of any symptoms, we are able to obtain invaluable information on the earliest signs of the disease. Also, by tracking individuals over long time periods, we gain insight into how the disease progresses. Key strengths of the DRC include its expertise in developing brain scanning techniques, sensitive cognitive tests, and new blood biomarkers for dementia, and these are a main focus of this study. It is hoped that this work will improve our ability to diagnose the disease earlier, track disease progression, and assess any impact new therapies are having on the degenerative process. A large number of publications have already been produced as a result of this study. We remain incredibly grateful to all the participants who have so generously contributed to this research. If you are interested in learning more or would like to take part, please contact us at email@example.com.
DIAN-L Longitudinal study
In 2008 the Dominantly Inherited Alzheimer’s Network (DIAN) was established. DIAN is an international collaborative project, with 14 centres worldwide participating. The aim of DIAN is to study, on a larger scale than has ever been possible before, those changes that occur in the brain in FAD, even prior to the onset of any symptoms. The research visits involve a number of assessments, including neurological examination, psychology testing, an MRI scan, blood tests and an optional lumbar puncture. So far, the results of the DIAN observational study have been very enlightening, with several influential research papers published. The DRC is the only UK site involved in the DIAN study. Many individuals who participate in DIAN-L also participate in the DRC’s longitudinal study of FAD (see above).
Dominantly Inherited Alzheimer’s Disease Network treatment trial (DIAN-TU)
2014 heralded an exciting new phase of FAD research – the first multicentre trial to assess the use potential disease modifying treatments in both symptomatic and presymptomatic FAD. We are currently the only DIAN-TU study site in the UK and have been recruiting participants since July 2014. The use of two different drugs (gantenerumab and solanezumab) are being assessed, with the hope being that at least one will be able to prevent, or slow, the progression of the disease.
Another exciting line of investigation the DRC is undertaking involves collecting a small sample of skin from the arm of someone with an FAD gene mutation and using it in a laboratory to make nerve cells with FAD gene mutations.