Title of study
ONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis (Portugal)
Name of Principal Investigator - Title
Name of Principal Investigator - First name
Name of Principal Investigator - Last name
Address of institution -Institution
Instituto de Medicina Molecular
Address of institution - Street address
Avenida Professor Egas Moniz
Address of institution - City
Address of institution - Postcode
FCT / Joint Programme - Neurodegenerative Disease Research (FPJ000876-JPND-PS/001/2013)
Q1a. Please indicate below if your cohort includes or expects to include, incidence of the following conditions?
Q2a. In a single sentence what is the stated aim of the study? (Maximum 30 words)
To define specific factors that can possibly influence the onset and course of the disease taking into account the genotype-phenotype background.
Q2b. What distinguishes this case-control study from other studies?
Multi-center study that translates risk and prognostic factors from specific genotype-phenotype profiles into a disease-specific domain ontology applying sophisticated relevant bio-informatic methods for analysis
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
DOI: 10.1016/j.clinph.2016.02.011, DOI: 10.1007/s12576-016-0484-x, DOI: 10.1016/j.neucli.2016.08.001
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:
Q4b. Study criteria: what are the inclusion criteria?
Having Motor Neuron Disease, Revised El escorial criteria
Q4c. Study criteria: what are the exclusion criteria?
Having other neurological conditions
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
Age, gender and ethnic background. Risk factors (trauma, surgery, exercise, smoking habits, lipids blood levels, stress level, place of birth and living, nutritional habits) medication taken, auto-immune diseases, diabetes and other medical disorders, cardiovascular events and other cardiovascular risk factors. Familial history (ALS, other neurodegenerative disorders, dementia, exercise, weight, cardiovascular events).
Q6b. Are there additional measures for participants with the clinical disorder?
Yes. Age at disease-onset, Affected region at presentation, Symptoms at onset, Clinical signs, Functional measurement, Progression rate, Laboratory findings (thyroid function, CK, cholesterol, triglycerides, serum albumin, respiratory function tests including spirometry and maximal pressures). Survival (death or ? 23 hours ventilatory support).
Q6c. Are there defined primary and secondary endpoints (e.g. defined health parameters)?
Q7. What is the study design?
Q8. Are your cases matched by
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
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
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?
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?
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, JPND Projects
Member States: JPND, Portugal
Diseases: Motor neurone diseases
Database Categories: N/A
Database Tags: N/A
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