NCT04639622

Brief Summary

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).

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
20

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Apr 2019

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 23, 2019

Completed
3 days until next milestone

First Submitted

Initial submission to the registry

April 26, 2019

Completed
1.6 years until next milestone

First Posted

Study publicly available on registry

November 20, 2020

Completed
4.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 23, 2025

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

April 23, 2026

Completed
Last Updated

February 11, 2022

Status Verified

February 1, 2022

Enrollment Period

6 years

First QC Date

April 26, 2019

Last Update Submit

February 10, 2022

Conditions

Frontotemporal Dementia

Keywords

Frontotemporal DementiaBiomarkerSocial cognitionGenetic mutation

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (2)

asymptomatic at-risk individual

OTHER

First-degree relative of a family member affected with the frontotemporal dementia.

Diagnostic Test: Investigation procedures

symptomatic individual

OTHER

Patient who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum

Diagnostic Test: Investigation procedures

Interventions

Investigation proceduresDIAGNOSTIC_TEST

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)

asymptomatic at-risk individualsymptomatic individual

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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.
  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Roger Salengro, CHRU de Lille - CMRR

Lille, 59000, France

RECRUITING

MeSH Terms

Conditions

Frontotemporal Dementia

Condition Hierarchy (Ancestors)

Frontotemporal Lobar DegenerationDementiaBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesTDP-43 ProteinopathiesNeurodegenerative DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic DiseasesNeurocognitive DisordersMental Disorders

Study Officials

  • Thibaud LEBOUVIER, MD, Ph

    CHU de Lille

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Thibaud LEBOUVIER, MD, Ph

CONTACT

03 20 44 60 21thibaud.lebouvier@chru-lille.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 26, 2019

First Posted

November 20, 2020

Study Start

April 23, 2019

Primary Completion

April 23, 2025

Study Completion

April 23, 2026

Last Updated

February 11, 2022

Record last verified: 2022-02

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)