Genetic Frontotemporal Dementia Initiative (GENFI)
GENFI follows individuals who either have mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) or chromosome 9 open reading frame 72 (C9orf72) genes, with such mutations implicated in the development of frontotemporal dementia, or who are at risk of carrying such mutations because a first-degree relative was a known symptomatic carrier. The pilot phase of GENFI (GENFI1, 2012 to 2015) included over 300 participants from research centres in the United Kingdom, Italy, Canada, Sweden and the Netherlands. Later phases also included over 1000 participants from Spain, Portugal, France, Belgium, Germany, Finland, Denmark, Croatia, Serbia, and Turkey. GENFI2 ran from 2015 to 2021, with GENFI3 currently underway, and GENFI4 due to start soon in 2026.
Study design
Cohort - clinical, Cohort - open
Number of participants at first data collection
365 (participants)
Recruitment is ongoing
Age at first data collection
≥ 18 years (participants)
Participant year of birth
Varied (participants)
Participant sex
All
Representative sample at baseline?
No
Sample features
Countries
Year of first data collection
2012
Primary Institutions
University College London (UCL) (Academic, United Kingdom)
Profile paper DOI
Funders
Canadian Institutes of Health Research (CIHR, Instituts de recherche en santé du Canada, IRSC) (Research council, Canada)
Centres of Excellence in Neurodegeneration (COEN) (Research council, International)
Medical Research Council (MRC) (Research council, United Kingdom)
Ministry of Health (Ministero della Salute) (Government, Italy)
Ongoing?
Yes
Data types collected
- Computer, paper or task testing (e.g. cognitive testing, theory of mind doll task, attention computer tasks)
- Interview – face-to-face
- Physical or biological assessment (e.g. blood, saliva, gait, grip strength, anthropometry)
- None
- Diffusion Tensor Imaging (DTI)
- Functional magnetic resonance imaging (fMRI)
- Magnetic Resonance Imaging (MRI)
- None
Engagement
Keywords
