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

Primary Purpose

Frontotemporal Dementia

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Investigation procedures
Sponsored by
University Hospital, Lille
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Frontotemporal Dementia focused on measuring Frontotemporal Dementia, Biomarker, Social cognition, Genetic mutation

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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.

Sites / Locations

  • Hôpital Roger Salengro, CHRU de Lille - CMRRRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

asymptomatic at-risk individual

symptomatic individual

Arm Description

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

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

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Full Information

First Posted
April 26, 2019
Last Updated
February 10, 2022
Sponsor
University Hospital, Lille
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1. Study Identification

Unique Protocol Identification Number
NCT04639622
Brief Title
GENetic Fronto Temporal Dementia Initiative in Lille
Acronym
GENFI-LILLE
Official Title
GENetic Fronto Temporal Dementia Initiative in Lille
Study Type
Interventional

2. Study Status

Record Verification Date
February 2022
Overall Recruitment Status
Recruiting
Study Start Date
April 23, 2019 (Actual)
Primary Completion Date
April 23, 2025 (Anticipated)
Study Completion Date
April 23, 2026 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Lille

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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).
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Frontotemporal Dementia
Keywords
Frontotemporal Dementia, Biomarker, Social cognition, Genetic mutation

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
20 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
asymptomatic at-risk individual
Arm Type
Other
Arm Description
First-degree relative of a family member affected with the frontotemporal dementia.
Arm Title
symptomatic individual
Arm Type
Other
Arm Description
Patient who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum
Intervention Type
Diagnostic Test
Intervention Name(s)
Investigation procedures
Intervention Description
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)
Primary Outcome Measure Information:
Title
Difference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD
Description
Characterization of patients and describe multi characteristics of disease
Time Frame
each year during 2 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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 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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Thibaud LEBOUVIER, MD, Ph
Phone
03 20 44 60 21
Ext
+33
Email
thibaud.lebouvier@chru-lille.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Thibaud LEBOUVIER, MD, Ph
Organizational Affiliation
CHU de Lille
Official's Role
Principal Investigator
Facility Information:
Facility Name
Hôpital Roger Salengro, CHRU de Lille - CMRR
City
Lille
ZIP/Postal Code
59000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Thibaud LEBOUVIER, MD, Ph
Phone
03 20 44 60 21
Ext
+33
Email
thibaud.lebouvier@chru-lille.fr

12. IPD Sharing Statement

Plan to Share IPD
No

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GENetic Fronto Temporal Dementia Initiative in Lille

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