GENetic Fronto Temporal Dementia Initiative in Lille (GENFI-LILLE)

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).

Study Overview

• Status: Recruiting
• Conditions: Frontotemporal Dementia
• Intervention / Treatment: Diagnostic test: Investigation procedures

Detailed Description

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
• Enrollment (Anticipated): 20
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Thibaud LEBOUVIER, MD, Ph; Phone Number: +33 03 20 44 60 21; Email: thibaud.lebouvier@chru-lille.fr

Study Locations

• France
  • Lille, France, 59000
    • Recruiting
    • Hôpital Roger Salengro, CHRU de Lille - CMRR
    • Contact: Thibaud LEBOUVIER, MD, Ph; Phone Number: +33 03 20 44 60 21; Email: thibaud.lebouvier@chru-lille.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 genfi@ucl.ac.uk.
  • 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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: asymptomatic at-risk individual; First-degree relative of a family member affected with the frontotemporal dementia.	Diagnostic test: Investigation procedures; 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)
Other: symptomatic individual; Patient who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum	Diagnostic test: Investigation procedures; 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)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Difference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD	Characterization of patients and describe multi characteristics of disease	each year during 2 years

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Thibaud LEBOUVIER, MD, Ph, CHU de Lille

Study record dates

Study Major Dates

• Study Start (Actual): April 23, 2019
• Primary Completion (Anticipated): April 23, 2025
• Study Completion (Anticipated): April 23, 2026

Study Registration Dates

• First Submitted: April 26, 2019
• First Submitted That Met QC Criteria: November 19, 2020
• First Posted (Actual): November 20, 2020

Study Record Updates

• Last Update Posted (Actual): February 11, 2022
• Last Update Submitted That Met QC Criteria: February 10, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: Biomarker; Frontotemporal Dementia; Genetic mutation; Social cognition
• Additional Relevant MeSH Terms: Mental Disorders; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Neurocognitive Disorders; Neurodegenerative Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Language Disorders; Communication Disorders; Speech Disorders; Frontotemporal Lobar Degeneration; Aphasia; Dementia; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain
• Other Study ID Numbers: 2018_22; 2018-A02579-46 (Other Identifier: ID-RCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No