Cambridge GENFI v1
Research type
Research Study
Full title
Cambridge Genetic Frontotemporal Dementia Initiative (Cambridge GENFI)
IRAS ID
204052
Contact name
James Rowe
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
4 years, 0 months, 0 days
Research summary
Frontotemporal Dementia (FTD) is a common cause of young onset dementia, approximately equal in frequency to Alzheimer’s disease in the younger age group. Its effect particularly on people of working age with young families represents a major health and economic burden on society. The only known risk factors for FTD are genetic, and up to 50% of FTD is familial. Three major genes account for the majority of autosomal dominant FTD: progranulin (GRN), microtubule-associated protein tau (MAPT) and the chromosome 9 open reading frame 72 (C9ORF72). A fourth common gene TBK1 was identified in 2016.
There are currently no treatments that can delay the onset or prevent the progression of FTD. However, there are promising avenues for treatment, particularly for GRN mutations where a uniform disease mechanism of loss of progranulin function underlies all mutation carriers. Drugs including chloroquine, vorinostat and nimodopine have been shown to increase progranulin expression suggesting their use in future clinical trials. However, despite having potential disease-modifying therapies there are still no biomarkers of FTD that can confidently predict when disease- modifying therapy should be initiated or how the response to it should be monitored. Evidence from familial Alzheimer’s disease shows that there are changes in a number of biomarkers many years before symptom onset suggesting that the ideal time for treating neurodegenerative disease may be prior to clinical presentation. The identification of robust biomarkers in genetic FTD that are indicative of disease onset and progression are therefore prerequisites for any disease-modifying therapy trial.REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
17/EE/0032
Date of REC Opinion
17 Mar 2017
REC opinion
Further Information Favourable Opinion