Cohort Descriptives

Variable Response
Cohort Name Dominantly Inherited Alzheimer Network (DIAN) Observational Study
Cohort Acronym DIAN
Study Overview DIAN is an international collaborative project, with 14 centres worldwide participating. The aim of DIAN is to study, on a larger scale than has ever been possible before, those changes that occur in the brain in FAD, even prior to the onset of any symptoms. The research visits involve a number of assessments, including neurological examination, psychology testing, an MRI scan, blood tests and an optional lumbar puncture. So far, the results of the DIAN observational study have been very enlightening, with several influential research papers published. The DRC is the only UK site involved in the DIAN study.
#Subjects at Baseline 437
Institution Name University College London
Department Name Dementia Research Centre
City London
Study/Database Website

http://www.ucl.ac.uk/drc/research/current-studies/fad

Principal Investigator (PI) Professor Martin Rossor
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 and Clinical staff
Does this take place in participants' homes or at a central location? At a central location
Do participants take part individually or are families/partners involved? Individually with a study partner (collateral source) who provides collateral information about the participant via interview and questionnaire such as the AD 8.
Dementia cases ascertained as part of study: Yes
Diagnosis based on review of existing clinical data Yes
Was diagnosis/primary outcomes made blind to exposure variables? Yes
Study start date 1/1/1991 12:00:00 AM
Study end datw 12/31/2017 12:00:00 AM
Is study ongoing? Yes
Is study still recruiting? Yes
Inclusion criteria Written informed consent obtained from the participant and collateral source prior to any study-related procedures. - Participant is aged 18+ inclusive and the child of an affected individual (clinically or by testing) in a pedigree with a known mutation. - Participant is cognitively normal. Year 07 through Year 11 enrolment will focus on asymptomatic adult children who are more than 15 years younger than the estimated age of symptom onset. Enrolment of new participants with very mild, mild, or moderate cognitive impairment is allowed only with prior approval of the DIAN Coordinating Centre. Participant has identified two persons who are not their full-blooded siblings who can serve as collateral sources for the study. - Participant is fluent in a language approved by the DIAN Coordinating Centre at about the 6th grade level (international equivalent) or above. In order to manage potential safety issues (radiation), participant burden (multiple LPs) and scientific integrity (overlapping psychometrics) issues, DIAN Administration and Clinical Cores must be notified in advance of DIAN participants’ enrolment in other research studies.
Exclusion criteria Participant has a medical or psychiatric illness that would interfere in completing initial and follow-up assessments. - Participant has advanced cognitive impairment requiring nursing home-level care. Enrolment of an individual with cognitive impairment must be pre-approved by the DIAN Coordinating Centre. In-Person Visit Exclusion Criterion - Pregnant women should not complete any in-person visit measures. Those measures should be collected when the woman is no longer pregnant. A participant may be excluded from participation in a procedure if clinical judgment determines the individual is too demented to meaningfully and safely complete the procedure. Lumbar Puncture Exclusion Criteria: - Treatment with blood thinners, e.g. Warfarin - Coagulation abnormalities- Known coagulopathy or platelet counts < 100,000 cells/μL - Lumbar spinal surgery within the last 6 months prior to screening, or any lumbar spinal surgery that interferes with anatomy of the inter-vertebral spaces. - History of chronic or repeat CSF leakage following previous LP(s) - Active infectious process PET Exclusion Criteria: - Current or recent (within 12 months prior to screening) participation in research studies involving radioactive agents such that the total research-related radiation dose to the participant in any given year would exceed the limits set forth in the US Code of Federal Regulations (CFR) Title 21 Section 361.1. (http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/CFRSearch.cfm?FR=361.1). It is the responsibility of each site to confirm the date of the most recent PET scan and to work within the guidelines of the local Radioactive Drug Research Committee (RDRC) regarding the imaging interval. Women who are lactating may participant in the PET studies, but should observe the lactation precautions listed in the DIAN Procedures Manual. MRI Exclusion Criteria: - Pacemakers/Defibrillators - Electronically, magnetically, and mechanically activated implants - Metallic splinters in the eye - Ferromagnetic haemostatic clips in the central nervous system CNS - See Imaging Procedures Manual for additional exclusionary factors. EXCLUDED MEDICATIONS DIAN has no exclusionary medications.

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
Sex Y
Ethnicity Y
Years of education Y
Parental education Y

Physical Health Status

Sub-category Variable type Variables generally collected
Cardiovascular disease Y
Myocardial infarction Y
Medication use for CVD Y
Hypertension Y
Olfactory sensitivity Y
Diabetic Status Y
Stroke data Y
Stroke type Y
Transient Ischemic Attack Y
Head trauma data Y
Loss of consciousness Y
Head trauma severity Y

Health Care Utilisation

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

Life Functionality

Sub-category Variable type Variables generally collected
Functional Assessment Questionnaire (FAQ) Y

Mental Health Status

Sub-category Variable type Variables generally collected
Geriatric Depression Scale (GDS) Y
NPI-Q Y
Apathy evaluation Y

Cognitive Status

Sub-category Variable type Variables generally collected
Alzheimer's dementia Y
Lewy Body disease Y
Huntington's disease Y
Parkinson's disease Y
Frontotemporal dementia Y
Vascular dementia Y
MCI Y
Subjective complaint Y
Clinical Dementia Rating scale (CDR) Y
Global Deterioration Scale (GDS) Y
A8 Y

Physical Examination

Sub-category Variable type Variables generally collected
Weight Y
Height Y
Neurological examination Y
Extrapyramidal symptoms Y

Digital Phenotyping

Sub-category Variable type Variables generally collected
Visual Memory Y
Visuospatial Function Y
Attention Y
Reaction time Y
Language Y
Letter Fluency Y
Word List Recall Y
Logical Memory Y
Digit Span Forward/Backward Y
Digit Symbol Y
Word List Delayed Y
MMSE Y
UPDRS (PD specific) Y

Biosample Assays

Sub-category Variable type Variables generally collected
Plasma (Repeated collection) Y
Serum (Repeated collection) Y
RNA Y
DNA Y
Abeta 1-40 Y
Abeta 1-42 Y
Abeta x-40 Y
Abeta x-42 Y
Autopsy data Y
CSF collected Y

Imaging

Sub-category Variable type Variables generally collected
Fluid attenuation inversion recovery (FLAIR) Y
Axial T2 FLAIR Y
Diffusion imaging (DTI/DWI) Y
f-MRI (rest) Y
PET (PiB and FDG) Y

Genomics

Sub-category Variable type Variables generally collected
APOE Y
APP Y
PSEN1 Y
PSEN2 Y