Title of study
Early biomarker changes in frontotemporal dementia
Name of Principal Investigator - Title
Name of Principal Investigator - First name
Name of Principal Investigator - Last name
Address of institution -Institution
Address of institution - Street address
Address of institution - City
Address of institution - Postcode
Q1a. Please indicate below if your cohort includes or expects to include, incidence of the following conditions?
Motor neurone diseases| Alzheimer's disease and other dementias
Q2a. In a single sentence what is the stated aim of the study? (Maximum 30 words)
Aim to find early disease-related differences and biomarkers in MRI, blood, cerebrospinal fluid and neuropsychological assessment in presymptomatic familial frontotemporal dementia
Q2b. What distinguishes this case-control study from other studies?
This is the first and the largest single-center longitudinal cohort study of presymptomatic familial frontotemporal dementia
Q3a. i) Number of publications that involve use of your cohort to date
Q3a. ii) Please give up to three examples of studies to date (PI, Institution, Title of Study)
Q3b. If data on research outputs are already available please paste the publication list/other data or provide a link to where these data are publicly available
Dopper et al., 2014 Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia - Neurology
Rohrer et al., 2015 Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis Lancet Neurology
Dopper et al., 2016 Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study NeuroImage Clinical
Jiskoot et al., 2016 Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study Neurology
Meeter et al., 2016 Neurofilament light chain: a biomarker for genetic frontotemporal dementia Annals of Clinical and Translational Neurology
Meeter et al., 2016 Progranulin levels in plasma and cerebrospinal fluid in granulin mutation carriers Dementia and Geriatric Cognitive disorders Extra
Q3c. If no research has been done as yet, please explain in a few sentences what information (i.e. research findings) you expect will be gained from the case-control study
Q4a. Study criteria: what is the age range of participants at recruitment? Age in years From:
Q4a. Study criteria: what is the age range of participants at recruitment? To:
Q4b. Study criteria: what are the inclusion criteria?
Subjects are 50% at risk for familial frontotemporal dementia by a first-degree relative with a known pathogenic familial FTD mutation
Q4c. Study criteria: what are the exclusion criteria?
Previous stroke or other neurological conditions that may affect cognitive functions
Q5a. What is the size of the cohort (i.e. how many participants have enrolled)?
Q5b. What is the expected number of control participants?
Q6a. Please describe what measures are used to characterise participants
MRI, DNA, RNA, plasma, serum, CSF, NPA, skin biopsy
Q6b. Are there additional measures for participants with the clinical disorder?
Q6c. Are there defined primary and secondary endpoints (e.g. defined health parameters)?
Q7. What is the study design?
Q8. Are your cases matched by
Q9a. Does your study includes a specialised subset of control participants?
Q9b. If your study includes a specialised subset of control participants please describe
Control participants are 50% at-risk subjects, without carrying the gene mutation
Q10a. Is data collection for this study
Data collection ongoing| Data analysis ongoing
Q10b. If data collection is ongoing, are there plans to continue the cohort study beyond the current projected end date?
Yes - intend to apply for funding
Q12. Is there a system in place to enable re-contact with patients for future studies?
Q13a. Please give information on data stored in a database (1)
Data summarised in database
Q13a. Please give information on data stored in a database (2)
Q13a. Please give information on data stored in a database (3)
Database on spreadsheet (e.g. excel)
Q13a. Please give information on data stored in a database (4)
Q13a. Please give information on data stored in a database (5)
Please specify language used
Q13b. Please give information on how data is held as individual records
Q14a. Are data available to other groups?
Q14b. If data is available to other groups what is the access policy/mechanisms for access?
Apply to PI or co-ordinator at resource| Access through collaboration with PI only| Local/ regional access| National access| International access| Access for pilot studies permitted| Resource has own ethics approval so usually no need for separate external ethics approval
Q15. What data sharing policy is specified as a condition of use?
Q16a. Are tissues/samples/DNA available to other groups?
Q16b i) If yes, please describe below
Living donors: blood| Living donors: blood derivatives| Living donors: DNA| Living donors: cerebro-spinal fluid| Living donors: other (Skin biopsy)
Q16b. ii) In what form are tissues/samples/DNA supplied?
Primary Samples: Stabilised samples (frozen or fixed)| Secondary samples:(derivatives of primary samples)| Secondary samples: plasma| Secondary samples: DNA| Secondary samples: RNA
Q16b iii) Is the access policy/mechanism for obtaining samples the same as that for obtaining data (Q14 above)?
Q17. Is information on biological characteristics available to other groups?
Types: Case Control Studies
Member States: Netherlands
Diseases: Alzheimer's disease & other dementias, Motor neurone diseases
Database Categories: N/A
Database Tags: N/A
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