Genetic study on Frontotemporal Dementia in Lille

GENetic Fronto Temporal Dementia Initiative in Lille

This study is trying to learn more about genetic Frontotemporal Dementia by looking at both people with symptoms and those at risk, to find better ways to track the disease and treat it in the future.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 20 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: University Hospital, Lille (Academic / other)
• Locations: 1 site (Lille)
• Trial ID: NCT04639622 on ClinicalTrials.gov

What this trial studies

This study is part of the international GENFI2 initiative, focusing on a cohort of individuals with genetic Frontotemporal Dementia (FTD) and related disorders. It aims to enhance the understanding of symptomatic FTD patients and presymptomatic individuals at risk due to known genetic mutations. Participants will undergo a series of assessments, including clinical evaluations, neuropsychiatric tests, cognitive assessments, imaging, and biosample collection over a five-year period. The study seeks to identify biomarkers for disease progression and optimal timing for potential disease-modifying therapies.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18 and older from families with known pathogenic mutations in GRN, MAPT, or C9orf72 genes.

Not a fit: Patients without a family history of Frontotemporal Dementia or those who do not carry the relevant genetic mutations may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic strategies for patients with Frontotemporal Dementia.

How similar studies have performed: Other studies focusing on genetic markers in neurodegenerative diseases have shown promise, suggesting that this approach may yield valuable insights.

Eligibility criteria

Inclusion Criteria:

* The participant must be 18 years old or older.
* The participant must be a member of a family with a known pathogenic mutation in the GRN or MAPT genes, or with a pathogenic expansion in the C9orf72 gene :

  * An affected member is one who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum.
  * An at-risk member is one who is a first-degree relative of a family member affected with the disease.
  * Pathogenicity of a GRN or MAPT mutation is defined by those included within the GENFI list of FTD mutation. If a novel mutation is discovered that is likely to be pathogenic and has not yet been included within the FTD mutation database then the GENFI Genetics Core will decide on inclusion. Please send an email to the GENFI Trials Team at [e-mail].
  * A pathogenic C9orf72 expansion is defined as greater than 30 repeats. Intermediate expansions are not considered pathogenic.
  * Participants from one of the small number of families around the world in which 2 (or more) pathogenic mutations have been found should not be included in GENFI.
* If the participant is demented or cognitively impaired there must be an available caregiver that can escort them.
* The participant must have an identified informant.
* The participant must be fluent in the language of their country of assessment.
* The participant accepts that genetic analysis will be carried out on his/her blood samples, and that no results will be available neither for the investigator nor for the participant.

Exclusion Criteria:

* Participant has another medical or psychiatric illness that would interfere in completing assessments.
* Contraindications to FDG-PET (allergy to FDG...)
* Participant is pregnant.

Where this trial is running

Lille

• Hôpital Roger Salengro, CHRU de Lille - CMRR — Lille, France (Recruiting)

Study contacts

• Principal investigator: Thibaud LEBOUVIER, MD, Ph — CHU de Lille
• Study coordinator: Thibaud LEBOUVIER, MD, Ph

Conditions Frontotemporal Dementia; Biomarker; Social cognition; Genetic mutation