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