Genetic Frontotemporal Dementia Initiative for Neurodevel... | NCT05779813

Studies
Genetic Frontotemporal Dementia Initiative for Neurodevelopment

NCT05779813

Sponsor

Western University

Status

Recruiting

Last Update Posted

Apr 3, 2025Actual

Enrollment

200Estimated

Phase

Not provided

Conditions

Frontotemporal Dementia
Family Members

Interventions

Not provided

Countries

Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 31, 2023Actual

Primary Completion Date

Mar 2033Estimated

Completion Date

Mar 2035Estimated

First Submitted Date

Feb 27, 2023

First Submission Date that Met QC Criteria

Mar 8, 2023

First Posted Date

Mar 22, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 31, 2025

Last Update Posted Date

Apr 3, 2025Actual

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

200Estimated

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

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)

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Written informed consent must be obtained and documented (from the participant and their substitute decision maker). This can be obtained in person or remotely.
Youths between the ages of 9 and 16 inclusive at time of enrollment, followed until age 17.
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).
Parent(s)/guardian deem appropriate to participate.
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.
Must have age-appropriate awareness that FTD runs in their family as determined by local PI.

Exclusion Criteria:

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).
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.
Lack of study partner.
For MRI: meeting any MRI incompatible criteria. Note: Participants may opt to decline MRI scans and complete the other measures.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

7 Years

Maximum Age

17 Years

Standard Ages

Child

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.

Sampling Method

Non-Probability Sample

Name	Role	Phone	Extension	Email
Kristy Coleman	Contact	519-646-6100		cognitive.neurology@sjhc.london.on.ca

Name	Affiliation	Role
Elizabeth Finger, MD	Western University	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
Western University	Recruiting	London	Ontario	N6A 3K7	Canada

IPD Sharing Statement Module

Plan to Share IPD

Description

Data will be shared within the GENFI consortium based on specific data access requests.

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

ID	Term
D057174	Frontotemporal Lobar Degeneration
D003704	Dementia
D001927	Brain Diseases
D002493	Central Nervous System Diseases