GENFI Lille is a French cohort that belongs to the international initiative GENFI2, a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND/ALS) investigating members of families with a known mutation in GRN or MAPT or an expansion in C9orf72 (including those affected with the disorder as well as at-risk members of families).
The purposes of this study is : * to improve characterization of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD * to develop markers indicative of the optimal time to start disease-modifying therapy, based on the proximity to clinical onset. * to develop markers of disease progression that can be used as outcome measures. * to derive sample size estimates for clinical trials. Participants will include those affected with the disorder as well as at-risk members of families (both mutation carriers and non-carrier first-degree relatives who will serve as a control group). All participants will be assessed longitudinally with a set of clinical, neuropsychiatric, cognitive, imaging and biosample protocols.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
20
All participants will be assessed longitudinally with a set of clinical evaluation, neuropsychiatric and cognitive assessments, imaging (MRI and PET scans) and biosample (CSF, blood samples)
Hôpital Roger Salengro, CHRU de Lille - CMRR
Lille, France
RECRUITINGDifference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD
Characterization of patients and describe multi characteristics of disease
Time frame: each year during 2 years
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