Clinical trial NCT05779813: Genetic Frontotemporal Dementia Initiative for Neurodevelopment
Official title: Genetic Frontotemporal Dementia Initiative for Neurodevelopment
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Frontotemporal Dementia
Family Members
Lead sponsor: Western University
Sponsor class: OTHER
First posted: 2023-03-22
Enrollment: 200
Sex: ALL
Minimum age (years): 7
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Youths between the ages of 9 and 16 inclusive at time of enrollment who have a 1st or 2nd degree biological relative with genetic FTD (i.e. a known mutation in biological parent or grandparent). Parents or guardians of potential GENFI NeuroDev participants are all aware of the autosomal dominant genetic nature of FTD in their family prior to being approached for potential participation in this study.

Brief summary: This is an international multi-centre cohort study of first and second degree family members of individuals who carry Frontotemporal Dementia (FTD) mutations in MAPT, GRN or C9ORF72 repeat expansions for youths between the ages 9-17.

Detailed description: GENFI-NeuroDev will study genetic FTD and its associated disorders (including Motor Neurone Disease (MND)/Amyotrophic Lateral Sclerosis(ALS)) in members of families with a known mutation in GRN or MAPT or an expansion in C9orf72. Participants with at-risk members of families (first-degree and second-degree relatives of known genetic mutation carriers). All GENFI-NeuroDev participants will be assessed longitudinally with a set of clinical, neuropsychiatric, cognitive, imaging and biosample protocols. Parents or guardians of potential GENFI NeuroDev participants are all aware of the autosomal dominant genetic nature of FTD in their family prior to being approached for potential participation in this study.

Eligibility criteria: Inclusion Criteria:

1. Written informed consent must be obtained and documented (from the participant and their substitute decision maker). This can be obtained in person or remotely.
2. Youths between the ages of 9 and 16 inclusive at time of enrollment, followed until age 17.
3. Youths must have a 1st or 2nd degree biological relative who has participated (past or present) in the Genetic Frontotemporal Dementia Initiative (GENFI) study or with genetic FTD (i.e. a known mutation in biological parent or grandparent).
4. Parent(s)/guardian deem appropriate to participate.
5. Must have a study partner who can participate as required in the protocol (provide corroborative information). Study partner must have regular contact with the participant and must be parent/guardian of this participant.
6. Must have age-appropriate awareness that FTD runs in their family as determined by local PI.

Exclusion Criteria:

1. Current structural brain abnormality affecting cognition or behaviour not thought to be possibly related to genetic FTD that would prevent completion of study assessments (such as brain tumor, stroke, hydrocephalus).
2. Other concerns that participation in the study may not be in the best interest of the youth or parent, as raised by the participant's parent/guardian/primary care provider, local site PI or psychologist.
3. Lack of study partner.
4. For MRI: meeting any MRI incompatible criteria. Note: Participants may opt to decline MRI scans and complete the other measures.

Primary outcomes:
measure: Brain development as measured by structural and functional Magnetic Resonance Imaging
timeFrame: Through study completion, an average of 2 years
Secondary outcomes:
Other outcomes:
measure: Fluid biomarkers of neurodevelopment, neurodegeneration and inflammation
timeFrame: Through study completion, an average of 2 years
measure: Resting State quantitative electroencephalogram (EEG)
timeFrame: Through study completion, an average of 2 years
Locations:
city: London
country: Canada
facility: Western University
state: Ontario
Study officials:
affiliation: Western University
name: Elizabeth Finger, MD
role: PRINCIPAL_INVESTIGATOR
References: