Title of study
ONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis (Sweden)
Name of Principal Investigator - Title
Name of Principal Investigator - First name
Name of Principal Investigator - Last name
Address of institution -Institution
Institutionen för farmakologhi och klinisk neurovetenskap
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| Prion disease
Q2a. In a single sentence what is the stated aim of the study? (Maximum 30 words)
ALS genetic epidemiology and environmental exposure in 4 EU countries Portugal, Germany, Poland, Sweden
Q2b. What distinguishes this case-control study from other studies?
systematic collecting of data in 4 countries combined with genetic studies
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
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
Association between exposure and specific defined genetic variants of ALS
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?
standard EFNS clinical diagnostic criteria for ALS
Q4c. Study criteria: what are the exclusion criteria?
lack of informent consent from the patient to participate. Patients with very advanced disease
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
Standard neurological measures
Q6b. Are there additional measures for participants with the clinical disorder?
Genetic analysis for specified ALS genes
Q6c. Are there defined primary and secondary endpoints (e.g. defined health parameters)?
Q7. What is the study design?
Prospective cohort| dna analysis for SOD1 and C9orf72 mutations
Q8. Are your cases matched by
Age| Sex| Cognitive function| Genetic results
Q9a. Does your study includes a specialised subset of control participants?
Q9b. If your study includes a specialised subset of control participants please describe
Q10a. Is data collection for this study
Q10b. If data collection is ongoing, are there plans to continue the cohort study beyond the current projected end date?
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)
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?
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?
Q16b i) If yes, please describe below
Q16b. ii) In what form are tissues/samples/DNA supplied?
Primary samples: Supplied fresh| Secondary samples: plasma| Secondary samples: DNA
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: Sweden
Diseases: Motor neurone diseases, Prion disease
Database Categories: N/A
Database Tags: N/A
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