Frontotemporal DementiaGENFI-LILLENCT04639622
GENetic Fronto Temporal Dementia Initiative in Lille
A study testing Investigation procedures in people with Frontotemporal Dementia, run by University Hospital, Lille at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Frontotemporal Dementia
- What is being tested?
- Investigation procedures
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 23 Apr 2019to 23 Apr 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
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- 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.
Who cannot join
- Participant has another medical or psychiatric illness that would interfere in completing assessments.
- Contraindications to FDG-PET (allergy to FDG…)
- Participant is pregnant.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Roger Salengro, CHRU de Lille - CMRR
Lille, 59000
Thibaud LEBOUVIER, MD, Ph, 03 20 44 60 21 ext. +33, thibaud.lebouvier@chru-lille.fr
About this study
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).
Read the 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.
- Conditions
- Frontotemporal Dementia
- Being tested
- Investigation procedures
- Keywords
- Frontotemporal Dementia, Biomarker, Social cognition, Genetic mutation
- Medical subject headings
- Frontotemporal Dementia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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)
| Study group | Role | What they receive |
|---|---|---|
| asymptomatic at-risk individual | Other | First-degree relative of a family member affected with the frontotemporal dementia. Receives: 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 Receives: Diagnostic Test: Investigation procedures |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: each year during 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2020
- Study start23 Apr 2019
- Primary completion23 Apr 2027 (estimated)
- Study completion23 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Frontotemporal DementiaStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thibaud LEBOUVIER, MD, Ph, Principal investigator, CHU de Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04639622
- Sponsor's protocol ID
- 2018_22
- Other IDs
- 2018-A02579-46
- Acronym
- GENFI-LILLE
- Status last verified
- May 2026
- First submitted
- 26 Apr 2019
- Last updated
- 22 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GENetic Fronto Temporal Dementia Initiative in Lille
- ClinicalTrials.gov ID
- NCT04639622
- Acronym / sponsor ID
- GENFI-LILLE / 2018_22
- Conditions
- Frontotemporal Dementia
- Keywords
- Frontotemporal Dementia, Biomarker, Social cognition, Genetic mutation
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- 23 Apr 2019 (actual)
- Primary completion
- 23 Apr 2027 (estimated)
- Study completion
- 23 Apr 2027 (estimated)
- First posted
- 20 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| asymptomatic at-risk individual | Other | Diagnostic Test: Investigation proceduresFirst-degree relative of a family member affected with the frontotemporal dementia. |
| symptomatic individual | Other | Diagnostic Test: Investigation proceduresPatient who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- 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 :
- 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.
Key exclusion criteria (3 listed)
- Participant has another medical or psychiatric illness that would interfere in completing assessments.
- Contraindications to FDG-PET (allergy to FDG…)
- Participant is pregnant.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Investigation proceduresAll 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) | Diagnostic test | asymptomatic at-risk individual, symptomatic individual |
Primary outcome
Difference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD
Time frame: each year during 2 years
Characterization of patients and describe multi characteristics of disease
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thibaud LEBOUVIER, MD, Ph principal investigator
CHU de Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Investigation procedures in people with Frontotemporal Dementia, run by University Hospital, Lille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Thibaud LEBOUVIER, MD, Ph (03 20 44 60 21 ext. +33, thibaud.lebouvier@chru-lille.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD (time frame: each year during 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 May 2026.