Study of Genetic Frontotemporal Dementia in Families with Known Mutations in Lille Tracking Symptoms and Biomarkers Over Time to Improve Diagnosis and Treatment Timing

What this Trial Is About

Researchers are investigating genetic frontotemporal dementia FTD and related disorders such as motor neuron disease MNDALS in families with known mutations in the GRN or MAPT genes or expansions in the C9orf72 gene. This study aims to better describe patients with symptoms and those at risk before symptoms begin, to identify markers indicating when to start treatments, and to track disease progression. The research also seeks to help design future clinical trials by estimating appropriate sample sizes. Participants include those diagnosed with FTD or related disorders and their first-degree relatives who may carry genetic mutations or expansions linked to the disease. All participants undergo repeated assessments over time, including clinical evaluations, neuropsychiatric and cognitive tests, brain imaging with MRI and PET scans, and collection of biological samples like cerebrospinal fluid and blood. Both mutation carriers and non-carrier relatives serve as study groups to compare disease features and progression. During the study, participants will be followed longitudinally with regular visits for various assessments and tests to monitor symptoms and biomarker changes. Researchers measure the yearly proportion of symptomatic and at-risk individuals over two years as a primary outcome. Genetic analysis is performed on blood samples without sharing results with participants or investigators. The study includes safety monitoring and requires caregiver support for cognitively impaired participants. The total duration and follow-up time may vary by participant.

GENetic Fronto Temporal Dementia Initiative in Lille