{"doc_desc":{"title":"Survey Observatory of Rare Diseases 2011","idno":"FRESH-PEF8427-en","producers":[{"name":"Thomas HEUYER","affiliation":"MALADIES RARES INFO SERVICES"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF8427-en","IDno":{"metadata_no":[{"agency":"PEF","code":"8427"},{"agency":"FReSH","code":"FRESH-PEF8427"}]},"title":"Survey Observatory of Rare Diseases 2011","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":"Long term illness"},{"keyword":"chronic disease"},{"keyword":"misdiagnosis"},{"keyword":"error"},{"keyword":"access to information"},{"keyword":"healthcare"},{"keyword":"out of pocket payments"},{"keyword":"renouncement to healthcare."},{"keyword":"ALD"},{"keyword":"medical care"}],"topics":[],"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 studied three topics: - Misdiagnosis; - Access to information; - Financial support for healthcare, products and service delivery.","abstract":"","coll_dates":[{"start":"2011-01-01","end":"2012-01-01"}],"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\": \"Status: patients, their spouses, their children or their parents. - Pathology: prevalence rate inferior or equal to one out of 2000 people, according to the data presented in Orphanet on the prevalence of rare diseases - In the absence of a diagnosis: in this situation, or the patient is likely to be affected by a rare disease, or the situation referred to hypochondria, mythomania... The Telephone Contact and Information person was in charge of assessing whether the situation referred to by the caller corresponded to the first or the second hypothesis and wether it was worth collecting data.\",\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"}]},"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":"198 individuals out of the 361 asked participated in the quantitative survey. (322 individuals participated in the qualitative study allowing to build the quantitative questionnaire)"},"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"}