Families affected by FAD have played a fundamental role in advancing our understanding of Alzheimer’s disease through participation in research. It was a British woman’s observation that many of her relatives had developed early onset Alzheimer’s disease at a similar age, and their offer to donate blood for DNA analysis, that led to the discovery of the first genetic cause of FAD in 1991. The finding of an amyloid precursor protein (APP) mutation in her family was a crucial step for scientists in developing a hypothesis of how Alzheimer’s disease may develop; through the abnormal accumulation and deposition of amyloid protein in plaques in the brain. It provided researchers with the incentive to develop drugs aimed at stopping the plaques from forming, or clearing them away once they were found. Furthermore, it meant that animal models carrying FAD mutations could be developed, in whom the disease process could be closely studied and potential new drugs could be tested.

Previous to 2012 treatment trials had involved only patients with sporadic Alzheimer’s disease, and not FAD. An important step in the creation of trials in FAD was a meeting in London involving the European Medicines Agency (EMA) in 2010. Several members of our support group kindly volunteered to participate in a film that was shown at this meeting. During this film they described how the disease has affected their families and how they feel about participating in research and potentially taking part in treatment trials in the future. Trials of potential treatments targeting amyloid have now been taking place in patients with FAD since 2012.  The Dementia Research Centre, University College London (UCL), is 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.

Presymptomatic treatment for Alzheimer's disease: feasible or fanciful?
Nick Fox, Professor of Neurology, UCL Institute of Neurology, UCL Brain Sciences