Cohort Descriptives

Variable Response
Cohort name The GENetic Frontotemporal dementia Initiative
Cohort acronym GENFI
General 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.
Number of subjects at baseline 515
Institution name University College London
Department name Dementia Research Centre
City London
Study or database website

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

Principal Investigator (PI): Name Dr Jonathan Rohrer
PI: Address Dementia Research Centre, UCL Institute of Neurology, 8-11 Queen Square, London, WC1N 3AR.
PI: email

j.rohrer@ucl.ac.uk

PI: phone 0203 448 3039
Administrative Contact (AC): Name Dr Jonathan Rohrer
AC: Address Dementia Research Centre, UCL Institute of Neurology, 8-11 Queen Square, London, WC1N 3AR.
AC: email J.rohrer@ucl.ac.uk
AC: phone 0203 448 3039
Technical Contact/Data manager (TC): Name Katrina Dick
TC: Address Dementia Research Centre, UCL Institute of Neurology, 8-11 Queen Square, London, WC1N 3AR.
TC: email

k.dick@ucl.ac.uk

TC: phone 0203 448 3962
Key study references

Open literature list

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
Clinicians: 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: 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
Diagnosis based on review of existing clinical data No
Was diagnosis/primary outcomes made blind to exposure variables? No
How many times followed up? 2
Study start date 2015-04-01
Study end date 2020-04-01
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.

Demographic and Clinical Information

Variable Response
Demographics
Age Yes
Age at time of diagnosis of dementia Yes
Age at last follow-up No
Age at time of death No
Sex Yes
Ethnicity Yes
Education Yes
Physical examinations
Any physical examination performed? Yes
Extrapyramidal symptoms Data available
Anthropometry Data available
Gait assessment Data available
Medical conditions
Cardiovascular disease data No
Medication use for CVD Data available
Hypertension Data available
Olfactory sensitivity No
Medication use Yes
Diabetic Status Data available

Cognitive Outcomes

Variable Response
Any domain-specific cognitive test performed? Yes
Visual Memory Data available
Data available
N (estimate) : 17
List all tests: Benson Figure Recall
Visuospatial Function Data available
Data available
List all tests: Benson Figure Copy, Block Design
Reaction time Data available
Data available
N (estimate): 17
List all tests: Color-Word Interference Test
Language Data available
Data available
N (estimate): 17
List all tests: Verbal Fluency Category/Letter
Other cognitive tasks - Digit Span Forward/Backward
- Trail Making Test
- Camel and Cactus Test (modified)
- Digit Symbol
- Boston Naming Test (modified)
- Mini-social cognition and emotion assessment
- FCSRT
IQ data available? No
Cognitive background? Yes
Years of education Yes
Level of education Yes
Parental education No
Standard dementia global cognition scales? Yes
MMSE Yes
MoCA No
ADAS-Cog No
Addenbrooke's Cognitive Exam No
3MS No
GPCOG No

Non-Cognitive Clinical Outcomes

Variable Response
Dementia diagnosis
Alzheimer's dementia No
Lewy Body Disease No
Huntingtons Disease No
Parkinsons Disease No
Frontotemporal dementia Yes
Vascular dementia No
MCI No
Subjective complaint No
Dementia diagnosis (Other comments) No
Functional rating scales
Any information on dementia rating collected? Yes
ADCS-ADL No
ADCS-ADL-MCI No
Blessed Dementia Scale No
Clinical dementia rating scale (CDR) Yes
Complex Activities of Daily Living No
Dependence Scale No
Functional Assessment Questionniare (FAQ) No
FAST No
Global Deterioration Scale (GDS) No
Katz ADL No
Lawton IADL No
PDQ39 (PD specific) No
UPDRS (PD specific) No
Hoehn and Yahr (PD specific) No
Schwab and England (PD specific) No
UHDRS (HD specific) No
Any information on subjective complaints collected? Yes
Specify any other scales Frontotemporal Dementia Rating Scale, ALS Functional Rating Scale- Revised (ALSFRS-R)
Any neuropsychiatric rating scale administered? Yes
Aggression Scale No
Beck Depression Inventory No
Behave-AD No
Center for Epidemiologic Studies Depression scale (CES-D) No
Connor-Davidson Resilience Scale No
Cornell depression Scale No
Geriatric Depression Scale (GDS) No
Hamilton depression rating scale (HDRS) No
Montgomery-Asberg depression scale (MADRS) No
NPI No
NPI-Q No
Speilberger State Anxiety Scale No
Specify any other scales Yes
Any Quality of Life Data Colllected? No
Quality of Life-Alzheimers Disease (QOL-AD) No
Dementia Quality of Life Instrument (DEMQOL) No
Discomfort Scale for Dementia of Alzheimers Type (DS-DAT) No
Progressive Deterioration Scale (PDS) No
Quality of Life in Late-Stage Dementia Scale (QUALID) No
Bedfords Alzheimers Nursing Severity Scale(BANS-S) No
EQ-5DVAS No
Short Form (SF) 36 No
Health Utilities Index 1, 2 or 3 No
Any information on Caregivers and Caregiving Collected? No
Caregivers for Alzheimers disease Problems Scale (CAPS) No
Community Dementia Quality of Life Profile (CDQLP) No
COQoL-AD No
Dementia Management Strategies Scale (DMSS) No
Caregiver Activity Survey (CAS) No
Quality of life of caregivers (CQOL) No
Health service utilisation
Any Health Resource Utilisation Collected ? No
Hospital utilisation No
Prescription Medicine Cost No
Over the Counter Drug Costs No
Nursing Home Costs No
Costs of Visits to Specialists (out-patient) No
Costs of Home-Care No
Admission to nursing home No
Admission to home care No
Day care at nursing home No
Day care at home for elderly No
Home care- domestic No
Home care- personal care No
Home care- nursing No
Physical therapist No
Care of community mental health team No
Permanent stay at nursing home No
Informal ADL care No
Informal iADL care No
Days of work absence if having a paid job No
Other neurological or psychiatric measurements? Yes
Any stroke data? Yes
Stroke type No
Transient Ischemic Attack Yes
Carotid plaques No
Any head trauma data? Yes
Loss of consciousness No
Sports, soccer and boxing No
Head trauma severity No
BISQ or equivalent No
EEG No
Psychiatric evaluations Yes
CESD scale (depression) No
Personality evaluation Yes
Personality evaluation comments Comments: Modified Interpersonal Reactivity Index
Apathy evaluation Yes
Anxiety measure No
Resilience evaluation No

Imaging

Variable Response
For imaging data, what format(s) do you use for storing data? DICOM
Structural T1 Acquired
Acquired
Manufacturer: Siemens Trio, Siemens Prisma, Philips Achieva
Scanner N: Multiple
Field strength: 3T
Fluid attenuation inversion recovery (FLAIR) Not acquired
Not acquired
Diffusion imaging (DTI/DWI) Acquired
Acquired
Manufacturer: Siemens Trio, Siemens Prisma, Philips Achieva
Scanner N: Multiple
Field strengths: 3T
f-MRI (task) Not acquired
Not acquired
f-MRI (rest) Acquired
Acquired
Manufacturer: Siemens Trio, Siemens Prisma, Philips Achieva
Scanner N: Multiple
Field strength: 3T
PET Not acquired
Not acquired
SPECT Not acquired
Not acquired
MEG Not acquired
Not acquired
In vivo Spectroscopy Not acquired
Not acquired
Do you use an imaging data management system (e.g. XNAT or LORIS)? Yes
If yes, which system do you use? XNAT
Primary contact for the technical aspects of the imaging data Dr Dave Cash

Genetics

Variable Response
Overview
Number Gwas subjects Cases N
Cases N: 0
N Whole genome sequenced No
Gene screening
APOE No
TREM2 No
APP No
PSEN1 No
PSEN2 No
GRN Yes
MAPT Yes
C9ORF72 Yes
VCP No
CHMP2B No
TDP-43 No
PRNP No
SNCA No
LRRK2 No
PINK1 No
PARK2 No
PARK7 No
NOTCH3 No
CST3 No
TTR No
GSN No
ITM2B No
HTT No
NPC1 No
NPC2 No

Biological samples

Variable Response
Blood collected Yes
Plasma Yes
Comments: Plasma samples were collected in EDTA tubes (2x6 ml)
Serum Yes
Comments: 2 x 6ml plain tubes
RNA Yes
Comments: 1 x 2.5ml PAXgene
DNA Yes
Comments: EDTA tubes 2x6ml
Abeta 1-40 No
Abeta 1-42 No
Abeta x-40 No
Abeta x-42 No
Blood Metabolic Analytes
CRP (c-reactive protein) No
eGFR (estimated Glomular Filtration Rate) No
Glucose No
HbA1c No
Lipids No
Liver Function Tests No
Serum creatinine No
Homocysteine No
Folate No
Other blood samples No
Are laboratory protocols and storage information available for bloods Yes
Urine collection
Urine No
Autopsy data
Autopsy No
Measurements already performed No
Saliva
Saliva collected No
Cortisol No
Are laboratory protocols and saliva storage information available? No
CSF
CSF collected Yes
Subgroup
Are CSF laboratory protocols and storage information available? Yes
mtDNA abnormalities No
Oxidative stress No

Brain donation

Variable Response
Is brain donation part of the existing protocol? No
Has an actuarial analysis been completed? No

Lifestyle

Variable Response
Smoking Yes
Current smoking Data available
Former smoking Data available
Alcohol Data available
Drugs of abuse assessment
Obesity and associated risk factors
Diet No
Employment status
Employment status Data available
Living situation
Socioeconomic status
Sleep assessment

Ethics and Engagement

Variable Response
Participant engagement
Is there participant representation in the governance of the cohort? No
Do existing mechanisms for consulting/involving participants exist? NA
Ethics
Does the cohort include participants who lack capacity? No
Is there a process in place for participants who lose capacity? No
Disclosure
Do procedures exist for the disclosure of incidental findings? Yes
What kinds of finding do these relate to? (imaging, genotyping, etc) If something were to be found, this would be reviewed at each centre and fed back to GP. This process applies to both imaging and clinical findings.
Do procedures exist for the disclosure of clinically relevant information identified as a direct focus of the study? (e.g. a diagnosis of dementia) No
Recruitment
How was the cohort recruited (NHS or not, primary or secondary care)? NHS, Secondary Care
Does the study involve ongoing connections with participants' own doctors (e.g. GPs)? Yes
Consent and recontact
Is there consent for recontact? No

Data Management

Variable Response
Consent for linkage to routine data
Which parts of the UK are represented by participants in your cohort? England
England
Scotland
Wales