Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04639622
Other study ID # 2018_22
Secondary ID 2018-A02579-46
Status Recruiting
Phase N/A
First received
Last updated
Start date April 23, 2019
Est. completion date April 23, 2026

Study information

Verified date February 2022
Source University Hospital, Lille
Contact Thibaud LEBOUVIER, MD, Ph
Phone 03 20 44 60 21
Email thibaud.lebouvier@chru-lille.fr
Is FDA regulated No
Health authority
Study type Interventional

Clinical 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 with the disorder as well as at-risk members of families).


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 20
Est. completion date April 23, 2026
Est. primary completion date April 23, 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Years and older
Eligibility 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 Design


Intervention

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)

Locations

Country Name City State
France Hôpital Roger Salengro, CHRU de Lille - CMRR Lille

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Lille

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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
See also
  Status Clinical Trial Phase
Recruiting NCT05288842 - Tanycytes in Alzheimer's Disease and Frontotemporal Dementia
Recruiting NCT03272230 - Assessment of Apathy in a Real-life Situation, With a Video and Sensors-based System N/A
Active, not recruiting NCT03987295 - A Phase 2 Study to Evaluate Safety of Long-term AL001 Dosing in Frontotemporal Dementia (FTD) Patients (INFRONT-2) Phase 2
Withdrawn NCT05497817 - A Study to Evaluate Caregiver Connections Via Technology for Patients With Alzheimer's and Other Types of Dementia N/A
Recruiting NCT04918251 - EEG and TMS-based Biomarkers of ALS, MS and FTD
Completed NCT01890343 - Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Phase 2
Completed NCT01002300 - Oxytocin and Social Cognition in Frontotemporal Dementia N/A
Completed NCT00376051 - Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Phase 4
Terminated NCT00159198 - Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Phase 1
Active, not recruiting NCT04516499 - Neurofilament Surveillance Project (NSP)
Recruiting NCT04747431 - A Study of PBFT02 in Patients With Frontotemporal Dementia and Progranulin Mutations (FTD-GRN) Phase 1/Phase 2
Completed NCT03636204 - A First in Human Study in Healthy Volunteers and in Participants With Frontotemporal Dementia With Granulin (GRN) Mutation Phase 1
Completed NCT01937013 - Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Phase 2
Active, not recruiting NCT05075187 - Epidemiological Study in FRONtoTemporal Dementia
Not yet recruiting NCT05004558 - Effects of Remote-based Resistance Training on Cardiometabolic Risk Factors, Cognitive Function, and Quality of Life in Adults Living With Alzheimer's Disease and/or Related Dementias N/A
Completed NCT02999282 - Rehabilitative Trial for the Rescue of Neurophysiological Parameters in Progranulin Deficient Subjects N/A
Completed NCT00594737 - Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Phase 3
Recruiting NCT03225144 - Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Active, not recruiting NCT04993755 - A Phase 2a Study of TPN-101 in Patients With C9ORF72 ALS/FTD Phase 2
Recruiting NCT04114994 - Longitudinal Cognitive Assessment by BoCA