Genetic Frontotemporal dementia Initiative (GENFI)
Research type
Research Study
Full title
Genetic Frontotemporal dementia Initiative (GENFI)
IRAS ID
155836
Contact name
Martin N Rossor
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Frontotemporal dementia (FTD) is a common cause of young onset dementia. Its effect on people of working age with young families represents a major health and economic burden on society. The only known risk factors for FTD at present are genetic with abnormalities (mutations) in three genes accounting for the majority of familial FTD, called progranulin, tau and chromosome 9 open reading frame 72. There are now promising avenues for treatment of these disorders but we still do not know when drugs should be started or how we should measure the response to treatment. This study investigates people who have genetic (inherited) FTD, including both people who have developed symptoms and also people who have a risk of developing symptoms in the future because they carry the abnormal genetic mutation. This allows a window into the earliest changes in the disease process. Study participants will have psychology testing (tests of memory, language, behaviour etc.), brain imaging, blood tests and spinal fluid collection (by lumbar puncture) in order to investigate the patterns of change in these different tests at different stages of the disorder. By studying individuals who carry the disease mutation and are thus destined to develop the disease we can understand the development from the very earliest changes, which would be the best time to start any treatment whilst the person remains well. The key objectives are to develop of markers which help identify the disease at its earliest stage as well as markers that allow the progression of the disease to be tracked. The eventual aim will be to use these markers in future clinical trials of drugs in genetic FTD. The results of this project will also lead to improvement in the recognition and diagnosis of genetic FTD as well as provide improved information about prognosis for patients and members of their family.
REC name
London - Queen Square Research Ethics Committee
REC reference
14/LO/1758
Date of REC Opinion
4 Dec 2014
REC opinion
Further Information Favourable Opinion