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 | |
| 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 | |
| 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 | |
| TC: phone | 0203 448 3962 |
| Key study references | |
| 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 |