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

Website


http://www.ataxia-study-group.net

Contact email


[email protected]

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

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