{"doc_desc":{"title":"Survey Observatory of Rare Diseases 2012","idno":"FRESH-PEF8422-en","producers":[{"name":"Thomas HEUYER","affiliation":"MALADIES RARES INFO SERVICES"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF8422-en","IDno":{"metadata_no":[{"agency":"PEF","code":"8422"},{"agency":"FReSH","code":"FRESH-PEF8422"}]},"title":"Survey Observatory of Rare Diseases 2012","alternate_title":""},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Thomas;HEUYER","PILabo":"Maladies Rares Info \/ Observatoire des Maladies Rares","affiliationName":"MALADIES RARES INFO SERVICES","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"","uri":"","role":"pi id"},{"title":"SIREN","uri":"440803724","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"theuyer@maladiesrares.org","isContact":"Yes"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"MALADIES RARES INFO SERVICES","extlink":[{"title":"SIREN","uri":"440803724","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"ASS FRANCAISE CONTRE LES MYOPATHIES (AFM)","extlink":[{"title":"SIREN","uri":"775609571"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Thomas;HEUYER","email":"theuyer@maladiesrares.org","type":"contact","affiliationName":"MALADIES RARES INFO SERVICES","contactPointLabo":"","extlink":[{"uri":"440803724","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"Diagnosis"},{"keyword":"announcement"},{"keyword":"medical treatments"},{"keyword":"financial difficulties"},{"keyword":"coordination between physicians"},{"keyword":"support"},{"keyword":"interpersonal surrounding"},{"keyword":"orphan medicinal products."},{"keyword":"monitoring"},{"keyword":"healthcare"}],"topics":[{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"The objective of the Observatory is to provide to all skateholders involved in the fight against rare diseases reliable data highlighting important issues to which patients and their families are confronted. These data must allow not only to identify those issues but also to bring forward proposals to mitigate them. This survey covered three topics: - Communication about the diagnosis; - Pratical difficulties linked to drugs and other medical products; - Coordination among the healthcare workforce.","abstract":"","coll_dates":[{"start":"2012-01-01","end":"2012-12-31"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Male\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"Female\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Infant, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Infant (28 days to 2 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        },\n        {\n            \"value\": \"Child, Preschool (2 to 5 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\n            }\n        },\n        {\n            \"value\": \"Child (6 to 12 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Young Adult (19 to 24 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adult (25 to 44 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Middle Aged (45 to 64 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Aged (65 to 79 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Aged, 80 and over (80 years and more)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Being a patient or a family member of the patient (parents, grand-parents, chilren, spouses); - Being affected by a rare disease (prevalence rate inferior or equal to one out of 2000 people); - Being able to participate in the survey (the survey was not proposed to people in distress, in a state of psychological fragility...)\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Participant-reported health data']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth care consumption and services\r\nQuality of life\/health perception\r\nOthers"}]},"method":{"data_collection":{"time_method":"One-time cross-sectional study","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Converting or copying information into a structured record\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"< 500 individuals","response_rate":"244 questionnaires were collected (137 paper forms and 107 online questionnaires) and 239 were included in the final analysis."},"method_notes":"Observational Study","study_class":"Completed study","notes":[{"subject":"research type","values":["Observational Study"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"Contact the principal investigator","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"en","originLang":"en","autoTranslation":false,"status":"imported","creationDate":"18-03-2014","lastUpdatedAuto":null,"lastUpdatedManual":"09-05-2014","isContributorPI":"No","contributorName":"Thomas HEUYER","contributorAffiliation":"MALADIES RARES INFO SERVICES","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/www.maladiesraresinfo.org\/services-proposes\/89.html"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Private non-profit","Private non-profit"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Private non-profit"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":"Yes"},"activeFollowUp":{"isActiveFollowUp":"No","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"No"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"","isDataInBiobank":"No","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"No","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}