{"doc_desc":{"title":"Registre fran\u00e7ais de la maladie de pompe (registre qualifi\u00e9)","idno":"FRESH-PEF2589-fr","producers":[{"name":"Pascal LAFORET","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF2589-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"2589"},{"agency":"FReSH","code":"FRESH-PEF2589"}]},"title":"Registre fran\u00e7ais de la maladie de pompe (registre qualifi\u00e9)","alternate_title":""},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Pascal;LAFORET","PILabo":"Assistance Publique des H\u00f4pitaux de \/ Centre de r\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"188713751","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"pascal.laforet@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSOCIATION INSTITUT DE MYOLOGIE (AIM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/0270xt841","role":"sponsor id"},{"title":"SIREN","uri":"483754347","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"ASS FRANCAISE CONTRE LES MYOPATHIES (AFM)","extlink":[{"title":"SIREN","uri":"775609571"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]},{"name":"SANOFI (FRANCE)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02n6c9837"},{"title":"SIREN","uri":"395030844"}]},{"name":"SANTE PUBLIQUE FRANCE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00dfw9p58"},{"title":"SIREN","uri":"130022338"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Pascal;LAFORET","email":"pascal.laforet@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"\u00e9valuation"},{"keyword":"tol\u00e9rance"},{"keyword":"efficacit\u00e9"}],"topics":[{"topic":"Endocrinologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/d1dd1bac-5313-4ab3-837f-4acd3ec521a7"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D004704"}]},{"topic":"Neurologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009462"}]},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"}],"purpose":"Objectifs du registre dans le domaine de la sant\u00e9 publique : - Collecter des donn\u00e9es \u00e9pid\u00e9miologiques sur la maladie de Pompe en France, et \u00e9valuer pr\u00e9cis\u00e9ment le nombre de patients affect\u00e9s par cette pathologie. - Evaluer la tol\u00e9rance et l\u2019efficacit\u00e9 du Myozyme, seul traitement ayant actuellement une efficacit\u00e9 d\u00e9montr\u00e9e dans la maladie de Pompe, mais dont le co\u00fbt exceptionnel pour le syst\u00e8me de sant\u00e9 rend imp\u00e9ratif un suivi standardis\u00e9 des patients au long cours. Des informations homog\u00e8nes et standardis\u00e9es concernant les patients atteints de la maladie de Pompe et trait\u00e9s par Myozyme sont recueillies tous les 6 mois pour les patients sous traitement et tous les 12 mois pour les autres patients Objectifs du registre dans le domaine de la recherche clinique : -Ce registre a \u00e9galement pour but de mieux conna\u00eetre l\u2019histoire naturelle de la maladie chez les patients non trait\u00e9s,de pr\u00e9ciser la fr\u00e9quence et la gravit\u00e9 de manifestations inhabituelles de la maladie (malformations art\u00e9rielles c\u00e9r\u00e9brales, troubles digestifs, troubles sphinct\u00e9riens\u2026) Objectifs du registre dans le domaine de la th\u00e9rapeutique : - Il est probable que d\u2019autres approches th\u00e9rapeutiques seront d\u00e9velopp\u00e9es dans les ann\u00e9es \u00e0 venir. L\u2019existence d\u2019un registre ind\u00e9pendant aura alors certainement un r\u00f4le d\u00e9terminant pour recruter des patients dans ces futurs essais, et permettra de faciliter les comparaisons des r\u00e9sultats avec ceux obtenus chez les patients sous enzymoth\u00e9rapie substitutive.","abstract":"","coll_dates":[{"start":"2004-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Masculin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"F\u00e9minin\",\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\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        },\n        {\n            \"value\": \"Petite enfance (2 \u00e0 5 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\n            }\n        },\n        {\n            \"value\": \"Enfance (6 \u00e0 12 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000293\"\n            }\n        },\n        {\n            \"value\": \"Adulte (19 \u00e0 24 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adulte (25 \u00e0 44 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Adulte (45 \u00e0 64 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Les patients ne sont inclus dans le registre que lorsque le diagnostic de maladie de Pompe est confirm\u00e9 par l\u2019analyse biochimique (mise en \u00e9vidence du d\u00e9ficit en alpha-glucosidase acide sur le sang, le muscle ou les fibroblastes) et\\\/ou g\u00e9n\u00e9tique.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es socio-d\u00e9mographiques','Donn\u00e9es paracliniques (hors biologiques) : Exploration fonctionnelle']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9\r\nConsommation de soins\/services de sant\u00e9"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"< 500 individus","response_rate":"L\u2019incidence calcul\u00e9e de tous les formes de la maladie de Pompe est estim\u00e9e \u00e0 1\/40 000. En France, plus de 100patients ont d\u00e9j\u00e0 \u00e9t\u00e9 diagnostiqu\u00e9s comme atteints de la maladie de Pompe.The calculated incidence of all forms of Pompe disease is put at 1\/40,000. In France, over 100patients have already been diagnosed as suffering from Pompe disease."},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Registre de morbidit\u00e9"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"Base de donn\u00e9es h\u00e9berg\u00e9e sur serveur 4D, avec acc\u00e8s sur demande. Acc\u00e8s s\u00e9curis\u00e9 sur le web en cours de construction.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"06-04-2011","lastUpdatedAuto":null,"lastUpdatedManual":"12-04-2012","isContributorPI":"Non","contributorName":"Pascal LAFORET","contributorAffiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-FPR"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Priv\u00e9 \u00e0 but non lucratif","Public (France)","Industrie","Public (France)","Priv\u00e9 \u00e0 but non lucratif"],"otherFundingAgentType":["","","","",""]},"sponsor":{"sponsorType":["Priv\u00e9 \u00e0 but non lucratif"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":"Oui"},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Des informations homog\u00e8nes et standardis\u00e9es concernant les patients atteints de la maladie de Pompe trait\u00e9s ou non sont recueillies suivant un protocole d\u00e9j\u00e0 \u00e9tabli (recommandations du Comit\u00e9 d\u2019Evaluation du Traitement de la maladie de Pompe, CETP). Les param\u00e8tres de suivi correspondant aux recommandations du CNR-MR (comit\u00e9 National des Registres-Maladies Rares) \u2013 CETP sont recueillis tous les 6 mois pour les patients sous traitement et tous les 12 mois pour les autres patients. Par ailleurs une partie des donn\u00e9es qui vont \u00eatre recueillies sur le registre Fran\u00e7ais se superposant \u00e0 celles du registre de la firme Genzyme, un partage de donn\u00e9es est envisag\u00e9 afin de r\u00e9pondre aux exigences de l\u2019EMA (European Medicines Agency) qui demande aux autorit\u00e9s de sant\u00e9 de transmettre des donn\u00e9es d\u2019efficacit\u00e9 et de tol\u00e9rance sur le registre international.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"France m\u00e9tropolitaine"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"activit\u00e9 alpha-glucosidas acide, Glc4 urinaire, CPK","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}