{"doc_desc":{"title":"RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics","idno":"FRESH-PEF74146-en","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74146-en","IDno":{"metadata_no":[{"agency":"FReSH","code":"FRESH-PEF74146"},{"agency":"INSERM","code":"C16-53"},{"agency":"ClinicalTrials.gov ID","code":"NCT06036693"},{"agency":"N\u00b0CPP","code":"14293"},{"agency":"N\u00b0MESR","code":"DC-2015-2482"}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics","alternate_title":"RaDiCo-MPS"},"study_authorization":{"agency":[{"name":"CPP"},{"name":"CNIL"},{"name":"Other"}]},"authoring_entity":[{"name":"Kumaran;DEIVA","firstname":"Kumaran","lastname":"DEIVA","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0002-8409-2365","role":"pi id"},{"title":"IdRef","uri":"110862090","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"","role":"labo id"}],"email":"kumaran.deiva@aphp.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"Team U1184","isContact":false}],"oth_id":[{"name":"Sonia;GUEGUEN","firstname":"Sonia","lastname":"GUEGUEN","type":"contributor","isContact":false,"extlink":[{"title":"ORCID","uri":"0000-0003-4730-2949","role":"team member id"},{"title":"IdRef","uri":"070367418","role":"team member id"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","type":"affiliation","teamMemberLabo":"U933, RaDiCo: Rare Disease Cohorts","extlink":[{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200918538R","role":"labo id"}]},{"name":"G2M network","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","role":"sponsor","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}]}],"funding_agencies":[{"name":"AGENCE NATIONALE DE LA RECHERCHE (ANR)","extlink":[{"title":"SIREN","uri":"130002504"},{"title":"ROR","uri":"https:\/\/ror.org\/00rbzpz17"}]},{"name":"MINISTERE DE L\u2019ENSEIGNEMENT SUPERIEUR, DE LA RECHERCHE ET DE L\u2019ESPACE","extlink":[{"title":"SIREN","uri":"110044013"},{"title":"ROR","uri":"https:\/\/ror.org\/03sjk9a61"}]}]},"distribution_statement":{"contact":[{"name":"Juliette;CARTON","lastname":"CARTON","firstname":"Juliette","type":"contact","email":"mps@radico.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","extlink":[{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200918538R","role":"labo id"}]}]},"study_info":{"keywords":[{"keyword":"Rare Diseases"},{"keyword":"MPS"},{"keyword":"Genetics"},{"keyword":"Lysosomal disease"},{"keyword":"Quality of Life"},{"keyword":"Cohort"}],"topics":[{"topic":"Anaesthesiology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/e92e8adc-8256-4a4c-a052-b3cad420db7d"},{"title":"MeSH","uri":"D000776"}],"vocab":"health theme"},{"topic":"Andrology and urology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/7341b8bd-fcb0-44c1-9ca9-8752b542ed59 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/d90d8dbf-c4b3-46c0-bf2c-55a4a3d9ba8b "},{"title":"MeSH","uri":"D033441 | D014572"}],"vocab":"health theme"},{"topic":"Cardiology and vascular medicine","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/4455c187-2f2f-4cd1-a4dd-449f59d73b39 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/c42fc6ec-b216-4a24-9e9d-f5e781c175a0"},{"title":"MeSH","uri":"D002309"}],"vocab":"health theme"},{"topic":"Dentistry","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/5754a839-d714-4849-9789-e831eb4af6f1"},{"title":"MeSH","uri":"D003813"}],"vocab":"health theme"},{"topic":"Dermatology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/5375c411-6db9-40ed-a854-6554102a587b"},{"title":"MeSH","uri":"D003880"}],"vocab":"health theme"},{"topic":"Gastroenterology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/a3898340-a42d-4f5e-a822-1de204a9a867"},{"title":"MeSH","uri":"D005762"}],"vocab":"health theme"},{"topic":"Hematology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/9239f328-78c9-40a5-a0b9-8e66fd9b6245"},{"title":"MeSH","uri":"D006402"}],"vocab":"health theme"},{"topic":"Hepatology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/27c456a1-051a-42f6-b52a-3beff0487da7"},{"title":"MeSH","uri":""}],"vocab":"health theme"},{"topic":"Medical genetics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/8e2d297f-5880-4d7a-969d-79026aa0779c"},{"title":"MeSH","uri":"D005823"}],"vocab":"health theme"},{"topic":"Neurology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"D009462"}],"vocab":"health theme"},{"topic":"Ophthalmology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/621ef1ce-2ebd-43d9-a6c7-ecd962d27269"},{"title":"MeSH","uri":"D009885"}],"vocab":"health theme"},{"topic":"Orthopaedics and traumatology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4538836-ae58-4941-b544-50f53e979e20"},{"title":"MeSH","uri":"D009985 | D014194"}],"vocab":"health theme"},{"topic":"Otolaryngology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/9c3a57c5-68bd-4ee7-a9cc-aa8ba07bde94"},{"title":"MeSH","uri":"D010036"}],"vocab":"health theme"},{"topic":"Paediatrics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"D010372"}],"vocab":"health theme"},{"topic":"Physical and Rehabilitation Medicine","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/38e57437-b2cc-4d26-a46e-c5b639c01e5f"},{"title":"MeSH","uri":"D010810"}],"vocab":"health theme"},{"topic":"Psychiatry","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/3de50dee-da1c-4791-a386-56bca24a5fed"},{"title":"MeSH","uri":"D011570"}],"vocab":"health theme"},{"topic":"Public, environmental and occupational health","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/b533acc2-aff1-4c65-80ca-5d5bee865ba9"},{"title":"MeSH","uri":"D004778"}],"vocab":"health theme"},{"topic":"Pulmonary medicine","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/f6e18c52-6087-4662-904c-5c4b8174e40e"},{"title":"MeSH","uri":"D015272"}],"vocab":"health theme"},{"topic":"Radiology and nuclear medicine","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/b469121d-9e7d-478a-890c-56c73607a917"},{"title":"MeSH","uri":"D011871 | D009683"}],"vocab":"health theme"},{"topic":"Rheumatology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bfb0bafd-7894-45ba-84fc-ddab5fd6c537"},{"title":"MeSH","uri":"D012219"}],"vocab":"health theme"},{"topic":"Transplantation","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/71137b04-547d-4329-8db3-251df3e84589"},{"title":"MeSH","uri":""}],"vocab":"health theme"},{"topic":"Mucopolysaccharidosis","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1596128696"}]},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Employment","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Education level","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Family situation","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Age","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants: Sex","vocab":"health determinant"}],"purpose":"The primary objective of the MPS cohort is to characterize the epidemiology and natural history of mucopolysaccharidoses (MPS) by compiling a retrospective and prospective collection of detailed phenotypic data from French patients affected by these conditions.\r\nSecondary objectives include conducting an in-depth assessment of the overall benefit of current treatments\u2014including their impact on quality of life\u2014and establishing genotype-phenotype correlations for each type of MPS.\r\nFinally, the exploratory objective is to contribute to the identification of new, relevant biomarkers for future clinical trials, by establishing a list of biomarkers useful for therapeutic management and the improvement of patient monitoring.","abstract":"The RaDiCo-MPS cohort is a national, multicenter, non-interventional, observational, longitudinal, descriptive, retrospective, and prospective study sponsored by Inserm and coordinated by the RaDiCo platform. It involves pediatric and adult patients with mucopolysaccharidosis (MPS) who are followed in the French network of Reference and Competence Centers for Lysosomal and Inherited Metabolic Diseases (G2M network), consisting of 8 Reference Centers and 3 Competence Centers. The enrollment period is set at 9 years, extended through June 2027, and each enrolled patient will be followed for 5 years, bringing the total duration of the study to 16 years and 6 months, with follow-up scheduled through June 2032.\r\nMPS are rare lysosomal storage disorders caused by the accumulation of glycosaminoglycans in lysosomes, leading to progressive multiorgan involvement. Seven clinical subtypes have been identified (MPS I through IV, VI, VII, and IX), in addition to multiple sulfatase deficiency. Their overall incidence is estimated to be between 1 in 25,000 and 1 in 30,000 births. These are chronic, progressive diseases involving skeletal, visceral, ENT, cardiac, respiratory, and sometimes neurocognitive involvement, with severity varying greatly depending on the subtype. The advent of specific treatments (enzyme replacement therapy, hematopoietic stem cell transplantation) has altered the prognosis, although their overall benefit on quality of life and their cost-effectiveness have not yet been fully evaluated.\r\nThe study population includes prevalent patients\u2014those diagnosed since 1973 and still under follow-up in France\u2014and incident patients diagnosed during the study. Approximately 950 patients were diagnosed between 1973 and 2013, half of whom are believed to still be alive; a total of approximately 500 patients are expected to be included in the cohort. The diagnosis is based on a significant enzyme deficiency associated with abnormal urinary excretion of glycosaminoglycans, supplemented by mutation analysis. There are no exclusion criteria. Data from deceased patients may be collected, unless the patient or their legal representatives expressly objected during the patient\u2019s lifetime.\r\nPatients are identified and recruited through the G2M network, as well as with the assistance of French laboratories specializing in the diagnosis of metabolic diseases and patient organizations. The study does not alter the usual course of care and does not require any additional tests; however, it does involve the collection of additional biological samples (plasma and urine) at enrollment and then annually while on treatment.\r\nThe cohort combines retrospective data\u2014drawn from medical records and existing databases\u2014with prospective data collected via the RaDiCo-MPS eCRF during routine follow-up visits, which occur one to four times a year depending on the patient\u2019s age and disease progression. The data collected include clinical characteristics (growth, signs, complications by system, psychomotor and cognitive development), radiological, electrophysiological, biochemical (urinary GAGs, enzyme activities, specific antibodies), and molecular data, as well as questionnaires on quality of life and global impression of change (CGI-I, PGI-I), and medical-social questionnaires.\r\nThe analyses will be primarily descriptive, illustrated by appropriate graphical representations, including calculations of means and standard deviations or percentages and confidence intervals, by visit and over the entire duration of the study, according to MPS subgroups. Comparative tests (ANOVA, chi-square, Fisher\u2019s exact test) and Kaplan-Meier survival curves with the log-rank test will be used. Explanatory multivariate analyses (PCA, CDA, logistic regression) will be used to examine associations between treatments and patient outcomes, between phenotype and genotype, and between candidate biomarkers and therapeutic response. The health economic evaluation of healthcare costs will be the subject of a subsequent protocol amendment.\r\nThe RaDiCo-MPS cohort thus constitutes a structured database of clinical, biological, genetic, and quality-of-life data collected over the long term from a nationally coordinated network of expert centers, enabling a better characterization of the natural history and management of mucopolysaccharidoses in France.","coll_dates":[{"start":"2017-12-14","end":"2032-06-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Auvergne Rh\u00f4ne-Alpes','Bretagne','Centre-Val de Loire','Grand Est','Hauts-de-France','Ile-de-France','Normandie','Nouvelle-Aquitaine','Occitanie','Pays de la Loire','Provence - Alpes - C\u00f4te d'Azur']","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D005260\"\n            },\n            \"value\": \"Female\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Male\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Infant, Newborn (birth to 28 days)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Infant (28 days to 2 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Child, Preschool (2 to 5 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Child (6 to 12 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000293\"\n            },\n            \"value\": \"Adolescent (13 to 18 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Young Adult (19 to 24 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adult (25 to 44 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008875\"\n            },\n            \"value\": \"Middle Aged (45 to 64 years)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"The RaDiCo-MPS Cohort inclusion criteria are the following: \u2022 A clinically relevant enzyme deficiency, with abnormally elevated urinary GAG excretion\\r\\n- And\\\/or identification of pathogenic mutations\\r\\n. \u2022 Signed informed consent or parents\\\/guardian non-opposition for deceased patients (minor or protected major)\",\n    \"clusion_E\": \"There are no non-inclusion criteria.\"\n}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Anthropometry','Paraclinical data (non-biological) : Function testing','Biological data','Environmental \/ exposure data','Genetic \/ genomic data','Participant-reported health data']","quality_statement":{"standards":[{"name":"['Clinical and phenotypic data are structured using appropriate medical thesauri and nomenclatures, notably Orphanet and HPO, in order to allow consistent coding and better structuring of the data collected.']","committee":"Steering Committee: B\u00e9n\u00e9dicte HERON, Samia PICHARD, Anais BRASSIER, Fran\u00e7ois FEILLET, Elise SACAZE\r\nScientific Committee: B\u00e9n\u00e9dicte HERON, Anais BRASSIER, Catherine CAILLAUD, Samia PICHARD, Elise SACAZE, Anne-Sophie GUEMANN, Fran\u00e7ois FEILLET, Elise JEANNESSON, Magali GORCE, Delphine GENEVAZ, the RaDiCo Project Team + Sonia GUEGUEN","governance":""}],"other_quality_statement":"['Data quality is ensured under the Data Management Plan and the Data Validation Plan, with continuous data management. Data collected in the eCRF undergo consistency and completeness checks, in particular through automatic control rules and a query system. Checks are carried out to identify data that are missing, inconsistent or require clarification from the investigating centres. Corrections are made after verification with the centres concerned, in accordance with research data management procedures.\nData management process flowcharts are also used to document the data processing and validation circuits, the various quality control points and the responsibilities of those involved at each stage.']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"The primary endpoint is the long-term course of the clinical, biological and paraclinical characteristics of patients with mucopolysaccharidosis (MPS), in particular type IVA patients treated with elosulfase alfa. This course will be assessed from clinical data (growth, signs, symptoms, complications, psychomotor development, cognitive functions and disability), radiological, electrophysiological, biochemical and molecular data. Data will be collected at inclusion, then annually during follow-up, and supplemented retrospectively for some data from medical records for patients already diagnosed."},{"activity_type":"secondary evaluation","activity_description":"The secondary endpoints are designed to assess the long-term course of patients with mucopolysaccharidosis (MPS) type IVA who have discontinued treatment with elosulfase alfa or who have never received this treatment. They include a description of the management and course of the disease before and in the absence of specific treatment, as well as during treatment, based on medical and functional data, appropriate scales and questionnaires, quality-of-life measures, the Clinician\u2019s Global Impression of Improvement (CGI-I) and Patient\u2019s Global Impression of Improvement (PGI-I), as well as life expectancy. The study also aims to identify genetic mutations and establish genotype-phenotype relationships for each type of MPS."}]},"method":{"data_collection":{"time_method":"Other","frequency":"Data is collected annually for 5 years per patient.","sampling_procedure":"['{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"TotalUniverseCompleteEnumeration\"},\"value\":\"Complete enumeration (including consecutive recruitment)\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Transcription\"},\"value\":\"Converting or copying information into a structured record\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Interview\"},\"value\":\"Interview with the participant (including clinical)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests\"},\"value\":\"Measurements and tests\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests.Physical\"},\"value\":\"Physical\/biological measurements (blood pressure, weight, biochemistry, imaging, etc.)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests.Psychological\"},\"value\":\"Psychological tests\/clinical scales (depression, cognition, quality of life, etc.)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Observation\"},\"value\":\"Observation (clinical or behavioural)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Recording\"},\"value\":\"Recording (audio, video, electrophysiological, imaging)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"SelfAdministeredQuestionnaire\"},\"value\":\"Self-administered questionnaire\"}"],"research_instrument":"Data access is restricted to specific research projects (SRP). Any data access request is submitted by a user and assessed by the cohort\u2019s relevant bodies, including a scientific review by the Scientific Committee and a feasibility, regulatory and legal analysis by the teams concerned. Once approved by the relevant bodies, the terms of data access and use are set out in a specific agreement. Results from the projects may be disseminated as scientific publications, presentations or reports, in compliance with confidentiality and the regulations applicable to health data.","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":[]}],"target_sample_size":"< 500 individuals","response_rate":"310 patients au 01\/10\/2026"},"method_notes":"Observational Study","study_class":"Ongoing study","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Cohort study"]},{"subject":"follow-up","values":["Monitoring by participant visit to the investigation center"]}]},"data_access":{"dataset_availability":{"access_place":"The data is hosted in France, within the secure France Cohortes data repository, by a hosting provider certified as a Health Data Host (HDS). It is collected and centralized in a secure eCRF, accessible only to duly authorized individuals in accordance with current security and access management procedures.","complete":"The available data files consist of data collected as part of the cohort and selected based on the purpose of the access request. Certain collected data may not be included in the files provided if they are subject to regulatory, ethical, or personal data protection restrictions.","status":"{\"extLink\":{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"},\"value\":\"Restricted access\"}","notes":""},"dataset_use":{"restrictions":"Access to the dataset is governed by an access request procedure. Data access takes place exclusively within the France Cohortes secure environment, with no possibility of extracting raw data to an external environment. The data are not freely distributed, and their use is limited to authorized research projects in accordance with the cohort\u2019s governance rules. Users must comply with the access conditions, confidentiality agreements, personal data protection rules, and data utilization guidelines established by the cohort.","conditions":"According to the cohort\u2019s Resource Access Charter, requests must be submitted as a research project synopsis to mps@radico.fr (reviewed within one month by the RaDiCo-MPS Scientific Committee). Requests for access to RaDiCo-MPS data (aggregated or individual) will be reviewed by the Scientific Committee following submission of a Specific Research Project (SRP) summary, as defined in the Resource Access Charter.","conf_dec":[{"txt":"Access to information regarding the cohort is contingent upon compliance with the confidentiality obligations applicable to the data, documents, and information made available. Authorized users agree to use this information solely for the approved purposes and not to disclose it to unauthorized third parties. These obligations may be formalized in specific agreements or contracts governing access to the data."}],"spec_perm":[{"txt":"","required":"No"}],"contact":[{"name":"Juliette;CARTON","firstname":"Juliette","lastname":"CARTON","email":"mps@radico.fr"}],"deposit_req":"Before publication, articles must be submitted to the relevant Project committee for review. Users who wish to publish must take into account all comments made by the relevant committee, provided that such comments are well-founded and not arbitrary. The terms and conditions for publication and dissemination are specified in the SRP Agreement.","cit_req":"Prior to any publication, the SRP Lead\u2014in consultation with the SRP Manager, if applicable\u2014shall determine, by mutual agreement with the relevant project committee and based on each individual\u2019s respective intellectual contributions, the order of authorship and the number of authors from each entity participating in the project. Publications must include at least one author from the Sponsor among their authors. Provided that this practice is accepted by the publishers of these scientific publications, RaDiCo will be listed as a co-author of the publication. In the event of refusal by the publisher, the members of the RaDiCo Consortium Agreement will provide the SRP Manager or the SRP Lead with the list of co-authors."}}},"additional":{"versionLang":"en","originLang":"en","lastUpdatedAuto":"27-10-2026","lastUpdatedManual":"27-10-2026","autoTranslation":false,"status":"Published","respValidation":"","isHealthTheme":true,"isContributorPI":false,"addTeamMember":true,"primaryInvestigator":{"isPIContact":false,"piMail":"kumaran.deiva@aphp.fr","piAffiliation":{"piLabo":"Team U1184"}},"relatedDocument":[],"contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","obtainedAuthorization":{"otherAuthorizingAgency":["","","CCTIRS"]},"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Public (France)"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":true},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":false,"allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[{"name":"Routine Care","type":"Other","typeOther":"Collection of clinical data from patients as part of their routine care, without any specific risk factors or exposures."}],"cohortLongitudinal":{"recrutementTiming":[]},"otherResearchType":{"otherResearchTypeDetails":""},"inclusionGroups":[],"nrInclusionGroups":false,"collectionProcess":{"collectionModeDetails":"The data are collected as part of the usual medical follow-up of patients included in the cohort. They come from clinical consultations, ophthalmological examinations carried out as part of care, and medical data available in patients\u2019 records. Quality-of-life questionnaires may also be offered to patients to assess the impact of the disease on daily life. The data collected are entered into a dedicated database in a pseudonymised and secure form.","collectionModeOther":""},"dataCollection":{"inclusionStrategy":[],"samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"Comprehensive coverage of France by the Reference and Competence Centers for Inherited Metabolic Disorders (G2M network). The regions listed are those where investigative centers are open."},"dataTypes":{"clinicalDataDetails":"Growth, signs, symptoms and complications for each system (cardiologic, pulmonary, neurologic, gastrologic,...), psychomotor milestones and cognitive evolution, molecular data ...","biologicalDataDetails":"Urinary GAG, enzyme activities, before and during specific treatment, ....","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryAvailable":true,"variableDictionnaryLink":"The data dictionary can be made available as part of an approved data access request, in accordance with the cohort\u2019s procedures."},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":false,"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}