Title of study

    Early biomarker changes in frontotemporal dementia

    Acronym for cohort


    Name of Principal Investigator - Title


    Name of Principal Investigator - First name


    Name of Principal Investigator - Last name

    van Swieten

    Address of institution -Institution

    Erasmus MC

    Address of institution - Street address

    s Gravendijkwal 230

    Address of institution - City


    Address of institution - Postcode

    3015 CE



    Contact email
    Funding source


    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:

    until death

    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)?


    If YES please specify

    Q7. What is the study design?

    Prospective cohort

    Q8. Are your cases matched by

    Age| Sex

    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

    Q11. Are data collected

    Only through study

    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

    % Available


    Q13a. Please give information on data stored in a database (2)

    Database is web-based

    % Available


    Q13a. Please give information on data stored in a database (3)

    Database on spreadsheet (e.g. excel)

    % Available


    Q13a. Please give information on data stored in a database (4)

    Database on paper

    % Available

    Q13a. Please give information on data stored in a database (5)


    % Available

    Please specify language used

    % Available


    Q13b. Please give information on how data is held as individual records

    Data is web-based

    % Available


    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?

    No policy exists

    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?

    Yes, for all the cohort

Types: Case Control Studies
Member States: Netherlands
Diseases: Alzheimer's disease & other dementias, Motor neurone diseases
Years: 2016
Database Categories: N/A
Database Tags: N/A

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