Cohort Descriptives

Variable Response
Cohort Name The GENetic Frontotemporal dementia Initiative
Cohort Acronym GENFI
Study Overview GENFI is 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). Non-carrier first-degree relatives will serve as a control group. All GENFI participants will be assessed longitudinally with a set of clinical, neuropsychiatric, cognitive, imaging and biosample protocols.
#Subjects at Baseline 515
Institution Name University College London
Department Name Dementia Research Centre
City London
Study/Database Website

http://genfi.org.uk/cores.html

Principal Investigator (PI) Dr Jonathan Rohrer
Key Study References

Please see Literature section

Population Based Study? No
Family Based Study? Yes
Clinical based sample? Yes
Is there follow-up data available? Yes
Were participants included prior to development of dementia (may refer to controls only)? Yes
Were participants included prior to development of MCI (may refer to controls only)? Yes
How is data collected? In person
Who carries out data collection? Interviewers, Research assistants and Clinicians
Does this take place in participants' homes or at a central location? Central
Do participants take part individually or are families/partners involved? Individually, Control participants were purposefully selected if they were mutation carriers and non-carrier first-degree relatives of people with FTD.
Dementia cases ascertained as part of study: No
How many times followed up? 2
Study start date 4/1/2015 12:00:00 AM
Study end date 4/1/2020 12:00:00 AM
Is study ongoing? Yes
Is study still recruiting? Yes
Inclusion criteria 1. Participant is 18 years old or older. 2. 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. 3. If the participant is demented or cognitively impaired there must be an available caregiver that can escort them. 4. The participant must have an identified informant. 5. The participant must be fluent in the language of their country of assessment.
Exclusion criteria 1. Participant has another medical or psychiatric illness that would interfere in completing assessments. 2. Participant is pregnant. 3. Local MRI and lumbar puncture contraindications.

Administration

Sub-category Variable type Variables generally collected
Study ID Y
Age Y
Sex Y

Sociodemographic

Sub-category Variable type Variables generally collected
Age Y
Age at time of diagnosis of dementia Y
Sex Y
Ethnicity Y
Years of education Y
Level of education Y
Employment Status Y

Physical Health Status

Sub-category Variable type Variables generally collected
Medication use for CVD Y
Hypertension Y
Diabetic Status Y
Stroke Data Y
Transient Ischemic Attack Y
Head trauma data Y

Health Care Utilisation

Sub-category Variable type Variables generally collected
Medication use Y
Medication use for CVD Y

Psychological Status

Sub-category Variable type Variables generally collected
Personality evaluation - Modified Interpersonal Reactivity Index Y

Mental Health Status

Sub-category Variable type Variables generally collected
Psychiatric evaluations Y
Apathy evaluation Y

Cognitive Status

Sub-category Variable type Variables generally collected
Frontotemporal dementia Y

Lifestyle

Sub-category Variable type Variables generally collected
Smoking Y
Current smoking Y
Former smoking Y
Alcohol Y

Physical Examination

Sub-category Variable type Variables generally collected
Extrapyramidal symptoms Y
Anthropometry Y
Gait assessment Y

Biosample Assays

Sub-category Variable type Variables generally collected
Plasma Y
Serum Y
DNA Y
CSF collected (subgroup) Y

Digital Phenotyping

Sub-category Variable type Variables generally collected
Visual memory Y
Visuospatial function Y
Reaction time Y
Language Y
Digit Span Forward/Backward Y
Trail Making Test Y
Camel and Cactus Test (modified) Y
Digit Symbol Y
Boston Naming Test (modified) Y
Mini-social cognition and emotion assessment - FCSRT Y
MMSE Y
Clinical Dementia Rating Scale (CDR) Y
Frontotemporal Dementia Rating Scale Y
ALS Functional Rating Scale- Revised (ALSFRS-R) Y

Imaging

Sub-category Variable type Variables generally collected
Structural T1 Y
Diffusion imaging (DTI/DWI) Y
f-MRI (rest) Y

Genomics

Sub-category Variable type Variables generally collected
GRN gene screening Y
MAPT gene screening Y
C9ORF72 gene screening Y