Genetic Frontotemporal Dementia Initiative for Neurodevelopment (GENFI-NeuroDev)

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.

Study Overview

• Status: Recruiting
• Conditions: Frontotemporal Dementia; Family Members

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Kristy Coleman; Phone Number: 519-646-6100; Email: cognitive.neurology@sjhc.london.on.ca

Study Locations

• Canada
  • Ontario
    • London, Ontario, Canada, N6A 3K7
      • Recruiting
      • Western University
      • Contact: Kristy Coleman, MSc; Phone Number: 661-2111; Email: cognitiveneurology@sjhc.london.on.ca

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years to 17 years (Child)
• Accepts Healthy Volunteers: Yes

• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Brain development as measured by structural and functional Magnetic Resonance Imaging	Through study completion, an average of 2 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Fluid biomarkers of neurodevelopment, neurodegeneration and inflammation	To examine differences compared to age matched non-carriers in physiologic signals in fluid biomarkers of synaptic markers, axonal markers, and neuroinflammation markers.	Through study completion, an average of 2 years
Resting State quantitative electroencephalogram (EEG)	To analyze resting state quantitative EEG (qEEG) power spectral density, a reliable metric of CNS physiology in children.	Through study completion, an average of 2 years

Collaborators and Investigators

• Sponsor: Western University
• Investigators: Principal Investigator: Elizabeth Finger, MD, Western University

Study record dates

Study Major Dates

• Study Start (Actual): March 31, 2023
• Primary Completion (Estimated): March 1, 2033
• Study Completion (Estimated): March 1, 2035

Study Registration Dates

• First Submitted: February 27, 2023
• First Submitted That Met QC Criteria: March 8, 2023
• First Posted (Actual): March 22, 2023

Study Record Updates

• Last Update Posted (Actual): April 3, 2025
• Last Update Submitted That Met QC Criteria: March 31, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Metabolic Diseases; Neurobehavioral Manifestations; Neurocognitive Disorders; Neurodegenerative Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Communication Disorders; Language Disorders; Aphasia; Speech Disorders; Frontotemporal Lobar Degeneration; Dementia; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain
• Other Study ID Numbers: GENFI-NeuroDev

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Data will be shared within the GENFI consortium based on specific data access requests.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No