Title of cohort

    Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6

    Acronym for cohort

    RISCA

    Name of Principal Investigator - Title

    Prof

    Name of Principal Investigator - First name

    Thomas

    Name of Principal Investigator - Last name

    Klockgether

    Address of institution -Institution

    University of Bonn

    Address of institution - Street address

    Sigmund-Freud-Str. 25

    Address of institution - City

    Bonn

    Address of institution - Postcode

    53105

    Country

    Germany

    Contact email
    Funding source

    Q1a. Please indicate below if your cohort includes or expects to include, incidence of the following conditions?

    Spinocerebellar ataxia (SCA)

    Q1b. When are studies on the above condition(s) expected to become possible?

    Already Possible

    Q2a. In a single sentence what is the stated aim of the cohort?

    To enrol and study a cohort of asymptomatic gene carriers for spinocerebellar ataxia

    Q2b. What distinguishes this cohort from other population cohorts?

    Q3a. i) Number of publications that involve use of your cohort to date

    0

    Q3a.ii) Please give up to three examples of studies to date (Principal Investigator, 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

    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 population

    Q4a. Study criteria: what is the age range of participants at recruitment? Age in years From:

    18

    Q4a. Study criteria: what is the age range of participants at recruitment? To:

    Until death

    Q4b. Study criteria: what are the inclusion criteria?

    First-degree relative of a patient with SCA1, SCA2, SCA3 or SCA6

    Q4c. Study criteria: what are the exclusion criteria?

    Manifested ataxia

    Q5. What is the size of the cohort (i.e. how many participants have enrolled)?

    1,000-5,000 participants

    Q6a. Please describe what measures are used to characterise participants

    Clinical scale, timed tests, MRI, electrophysiology

    Q6b. Are there additional measures for participants with a clinical disorder?

    Q6c. Are there defined primary and secondary endpoints (e.g. defined health parameters)?

    Yes

    If yes please specify

    Manifestation of ataxia

    Q7. What is the study design (select all that apply)?

    Prospective cohort

    Q8. Are your cases matched by

    Q9a. Does your study include a specialised subset of control participants?

    No

    Q9b. If your study includes a specialised subset of control participants please describe

    Q10a. i) Please enter the data collection start date

    01/09/2008

    Q10a. ii) Please enter the data collection end date

    Q10a. iii) Is data collection for this study

    Data collection ongoing| Closed to new patients

    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. Is data collected

    Other please specify here

    Q12. Is there a system in place to enable re-contact with patients to ask about participation in future studies?

    Q13a. Please give information on the format and availability of data stored in a database (1)

    % available

    Q13a. Please give information on the format and availability of data stored in a database (2)

    % available

    Q13a. Please give information on the format and availability of data stored in a database (3)

    % available

    Q13a. Please give information on the format and availability of data stored in a database (4)

    % available

    Other (please specify)

    % available

    Q13b. Please give information on the format and availability of data held as individual records (1)

    % available

    Q13b. Please give information on the format and availability of data held as individual records (2)

    % available

    Q13b. Please give information on the format and availability of data held as individual records (3)

    % available

    Q13b. Please give information on the format and availability of data held as individual records (4)

    % available

    Please specify language used

    Q14a. Is data available to other groups?

    No

    Q14b. If data is available to other groups what is the access policy/mechanisms for access?

    Q15. What data sharing policy is specified as a condition of use?

    No requirement to make data publicly available

    Q16a. Are tissues/samples/DNA available to other groups?

    Yes

    Q16b i) If yes, please describe below:

    Q16b. ii) In what form are tissues/samples/DNA supplied?

    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

    Number of Patients

    % of total cohort

Types: Population Cohorts
Member States: Germany
Diseases: Spinocerebellar ataxia (SCA)
Years: 2016
Database Categories: N/A
Database Tags: N/A

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