{"doc_desc":{"title":"RaDiCo-COLPAC - National Cohort on the Epidemiology, Clinical and Genetic Heterogeneity of \"Low Phospholipid\u2010Associated Cholelithiasis\" (LPAC) Syndrome","idno":"FRESH-PEF74147-en","producers":[{"name":"Sonia GUEGUEN","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74147-en","IDno":{"metadata_no":[{"agency":"FreSH ","code":"FRESH-PEF74147"},{"agency":"INSERM","code":"C16-14 COLPAC"},{"agency":"ClinicalTrials.gov ID","code":"NCT05961826"},{"agency":"N\u00b0CPP","code":"14238ND"},{"agency":"N\u00b0MESR","code":"DC-2015-2480"}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"RaDiCo-COLPAC - National Cohort on the Epidemiology, Clinical and Genetic Heterogeneity of \"Low Phospholipid\u2010Associated Cholelithiasis\" (LPAC) Syndrome","alternate_title":"RaDiCo-COLPAC"},"study_authorization":{"agency":[{"name":"CPP"},{"name":"CNIL"},{"name":"Other"}]},"authoring_entity":[{"name":"Christophe;CORPECHOT","firstname":"Christophe","lastname":"CORPECHOT","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0002-7920-9784","role":"pi id"},{"title":"IdRef","uri":"231498276","role":"pi id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"200918542V","role":"labo id"}],"email":"christophe.corpechot@aphp.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm) \/ UMR_S938","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 Diseases 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":"FILFOIE, the healthcare network for rare liver diseases (in adults and children), which brings together reference and competence centers specializing in inflammatory diseases of the bile ducts.","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":"colpac@radico.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"U933, RaDiCo: Rare Diseases 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":"LPAC Syndrome"},{"keyword":"Gallstones"},{"keyword":"Rare disease"},{"keyword":"Quality of Life"},{"keyword":"Gastroenterology"},{"keyword":"Cohort"}],"topics":[{"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":"Hepatology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/27c456a1-051a-42f6-b52a-3beff0487da7"},{"title":"MeSH","uri":""}],"vocab":"health theme"},{"topic":"Internal medicine","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/0d45044a-74d5-4bd7-b920-b92af3388576 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/f0844378-9f30-4873-b19b-5bff8c184a36"},{"title":"MeSH","uri":"D007388"}],"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":"Paediatrics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"D010372"}],"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":"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":"Surgery","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/432746d6-998b-431f-b22f-d3abe0e8aada"},{"title":"MeSH","uri":"D013502"}],"vocab":"health theme"},{"topic":"Cholelithiasis","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1268183934"}]},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Age","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Behavioral determinants: Addiction","vocab":"health determinant"},{"topic":"Behavioral determinants: Physical activity","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 main objective is to describe the clinical, biological and radiological manifestations of LPAC syndrome, defined according to current diagnostic criteria or according to criteria extended to any recurrent symptomatic gallstone disease, and to characterize its different possible courses.\r\nThe secondary objectives are to estimate the prevalence of LPAC syndrome among patients referred for gallstone disease, to describe diagnostic and therapeutic practices, to identify new diagnostic criteria, to evaluate the response to medical and interventional treatments as well as the prognostic factors associated with an inadequate response, and finally to assess the impact of the syndrome on patients\u2019 quality of life.\r\nThe exploratory objectives aim to document the mode of genetic transmission and the penetrance of LPAC syndrome based on the phenotypes and genotypes of patients and their first-degree relatives, to deepen the genotype\/phenotype correlations of the ABCB4 gene, and to search for new predisposition or modifier genes in patients with or without an ABCB4 mutation.\r\n","abstract":"LPAC syndrome is a rare, symptomatic form of intrahepatic cholesterol gallstone disease that primarily affects young individuals (under 40 years of age) and has a genetic origin; it is characterized by frequent recurrence after cholecystectomy and a good therapeutic response to ursodeoxycholic acid (UDCA) in many cases; this syndrome exhibits significant clinical and genetic heterogeneity, and its prevalence in the general population remains unknown to date. This is an observational study\u2014both retrospective and prospective\u2014involving the collection of biological samples, conducted as part of the routine care of patients at reference and competence centers for rare diseases; It primarily includes adult patients meeting the diagnostic criteria for LPAC syndrome, as well as a few pediatric cases, and blood samples will be collected from index cases and their relatives to study the transmission and segregation of the identified mutations and to validate the genetic diagnosis.\r\nThe RaDiCo-COLPAC 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 patients (ages 13 and older) and adults with LPAC (Low Phospholipid-Associated Cholelithiasis) syndrome who are being treated at Reference and Center of Excellence Centers for Inflammatory Biliary Tract Diseases (MIVB network, FILFOIE network) as well as in hepatogastroenterology departments affiliated with the ANGH. As of August 18, 2026, 614 patients have been enrolled across 20 different centers. Patients will be followed for 5 years after enrollment, with at least one annual visit. The projected end date for the study is June 30, 2029.\r\nLPAC syndrome is a rare genetic disorder associated with a constitutional abnormality in bile composition, resulting in an abnormally low concentration of phospholipids in the bile. This abnormality leads to intrahepatic cholesterol gallstones, which cause recurrent biliary pain\u2014particularly after cholecystectomy\u2014and may be complicated by cirrhosis or cholangiocarcinoma. The disease may be associated with cholestasis of pregnancy and a family history of symptomatic gallstones (40% of cases). It is characterized by significant clinical and genetic heterogeneity. Its prevalence is unknown but is estimated to be less than 1% of patients with gallstones.\r\nThe study population includes prevalent and incident patients, aged 13 years or older, with LPAC syndrome meeting either the standard diagnostic criteria (at least 2 of the 3 criteria: onset before age 40, radiological evidence of intrahepatic gallstones, recurrence after cholecystectomy) or the expanded criteria (a single criterion). Liver transplant recipients are not included. An exploratory genetic study is offered to first-degree relatives (aged 18 and older) of the index cases to assess the penetrance of genetic abnormalities; their refusal does not affect the index case\u2019s participation.\r\nPatients are recruited from referral and specialty centers for inflammatory biliary tract diseases (MIVB network, FILFOIE program) and from hepatogastroenterology departments affiliated with the ANGH, either during a routine follow-up visit (prevalent cases) or at the first post-diagnosis consultation (incident cases). The study does not alter patient care and does not require any additional tests; data are collected from medical records and routine care. A single, non-additional blood sample will be used to contribute to a proposed DNA bank.\r\nThe cohort combines retrospective and prospective data.\r\nThe data collected include administrative data, general and specific clinical data (initial symptoms, diagnosis, biliary manifestations), comorbidity data, medication data (particularly UDCA), family history data, laboratory data (liver function tests, glucose and lipid parameters), imaging data (hepatobiliary ultrasound, MRI cholangiography), histological and elastometric data, if available, genotypic data (ABCB4 and candidate genes), as well as quality of life data (SF-36), collected at least once a year. A sample is collected for a DNA bank and a plasma bank and stored at the CRB-HUEP.\r\nThe RaDiCo-COLPAC cohort thus brings together longitudinal data from multiple centers on pediatric and adult patients with a rare disease. The harmonized collection of clinical, biological, radiological, and genetic data, combined with a genomic DNA and plasma bank, provides a structured foundation for analyzing the evolution of heterogeneity in LPAC syndrome.","coll_dates":[{"start":"2017-01-01","end":"2028-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Auvergne Rh\u00f4ne-Alpes','Bourgogne Franche-Comt\u00e9','Centre-Val de Loire','Grand Est','Hauts-de-France','Ile-de-France','Normandie','Nouvelle-Aquitaine','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\": \"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            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000368\"\n            },\n            \"value\": \"Aged (65 to 79 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000369\"\n            },\n            \"value\": \"Aged, 80 and over (80 years and more)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Any patient over 13 years of age, prevalent or incident, meeting the usual diagnostic criteria\\r\\n- Symptomatic gallstones with at least 2 out of 3 LPAC syndrome criteria\\r\\n- Symptomatic gallstones with only one out of 3 LPAC syndrome criteria\\r\\nLPAC syndrome diagnostic criteria (first symptoms before the age of 40, radiological images consistent with the existence of intrahepatic lithiasis, recurrence of symptoms after cholecystectomy)\\r\\n  \",\n    \"clusion_E\": \"Patients who have undergone liver transplantation.\"\n}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Anthropometry','Paraclinical data (non-biological) : Other','Biological data','Socio-demographic 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, including Orphanet and HPO, to ensure consistent coding and better organization of the collected data.']","committee":"Steering Committee: Christophe CORPECHOT, Pierre-Antoine SORET, Olivier CHAZOUILLERES, David ZANDITENAS, Damien LABARRIERE, Raphael POIGNET, Angela LEBURGUE, RaDiCo + DSO Project Team.\r\nScientific Committee: Christophe CORPECHOT, Pierre-Antoine SORET, Olivier CHAZOUILLERES, Nathalie CARRIE, Damien LABARRIERE, Raphael POIGNET; David ZANDITENAS, Angela LEBURGUE, RaDiCo + DSO Project Team.","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":"Health events \/ morbidity and mortality: manifestations of LPAC syndrome and course over time.\r\nThe primary assessment is based on the description of the clinical, biological and radiological manifestations of LPAC syndrome and their course in adult and pediatric patients meeting the usual or extended diagnostic criteria.\r\nThe variables used include:\r\n\u2022 Clinical characteristics: personal and family medical history related to the disease, clinical manifestations, medical complications and comorbidities;\r\n\u2022 Mortality data: occurrence of death, age at death and cause of death;\r\n\u2022 Biological parameters: results of liver biochemistry tests and glucose and lipid profile;\r\n\u2022 Radiological data: presence and location of stones or signs of intrahepatic, gallbladder or main bile duct microlithiasis, taking into account the radiologist\u2019s experience;\r\n\u2022 Genetic characteristics: presence or absence of an ABCB4 gene mutation and type of mutation identified.\r\nThe assessment covers data at diagnosis, at inclusion and during follow-up, in particular at visits and significant clinical events, such as a hospitalization or a consultation prompted by disease progression. The follow-up planned in the protocol is five years, with at least one annual visit.\r\n"},{"activity_type":"secondary evaluation","activity_description":"1.  Relative prevalence of LPAC syndrome among patients treated for gallstones\r\nThe criteria are the relative prevalence and relative incidence of LPAC syndrome at the participating centers during the period specified in the protocol. They are based, respectively, on the number of LPAC cases divided by the number of gallstone cases, and on the number of new LPAC cases divided by the number of new gallstone cases.\r\n2.  Diagnostic and therapeutic practices and treatment approaches\r\nThe assessment is based on the nature and sequence of the steps that led to the diagnosis, the time between the onset of symptoms and the diagnosis, and the duration of the diagnostic odyssey. The variables studied also include the medical and interventional treatments proposed, the healthcare professionals consulted, the tests performed, the frequency of follow-up, monitoring for complications, and the adjustment of treatment to the progression of the disease.\r\n3.  Identification of New Diagnostic Criteria\r\nThe evaluation is based on the clinical, biological, and radiological characteristics of patients who meet the standard or expanded diagnostic criteria, as well as on available data from their first-degree relatives. Variables include, in particular, age at onset of symptoms, radiological signs of intrahepatic lithiasis or microlithiasis, and recurrence of symptoms after cholecystectomy.\r\n4.  Response to Medical and Interventional Treatments\r\nResponse to ursodeoxycholic acid (UDCA) and to endoscopic, radiological, or surgical treatments is assessed based on changes in the frequency and intensity of pain episodes, the number of complications, liver function tests, radiological signs of intrahepatic lithiasis, and quality of life.\r\nAn inadequate response is characterized by a lack of reduction in pain episodes or complications, a lack of improvement or normalization in liver function tests, a lack of regression in radiological findings, or a lack of improvement in quality of life and social functioning.\r\n5.  Prognostic factors associated with an unfavorable outcome or poor response to treatment\r\nThe assessment is based on the association between clinical, biochemical, radiological, and therapeutic characteristics and the occurrence of complications\u2014whether fatal or nonfatal\u2014or death from liver-related causes or other causes.\r\n6.  Quality of Life \/ Perceived Health\r\nThe criterion is the score on the various dimensions of the SF-36 questionnaire and its change over the course of the study. Patients complete the questionnaire at enrollment and then every 12 months, with the option to complete it every 3 months if they wish."}]},"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":"[500-1000[ individuals","response_rate":"621 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 France Cohortes secure environment, 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 colpac@radico.fr (reviewed within one month by the RaDiCo-COLPAC Scientific Committee). Requests for access to RaDiCo-COLPAC 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":"colpac@radico.fr"}],"deposit_req":"Before publication, manuscripts are 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 PRS contract.","cit_req":"Prior to any publication, the PRS holder\u2014in consultation with the PRS manager, if applicable\u2014shall determine, by mutual agreement with the relevant project committee and based on each party\u2019s respective intellectual contributions, the authorship structure and the number of authors from each entity participating in the project. Publications must include at least one author from the sponsor. Provided that this practice is accepted by the publishers of these scientific journals, RaDiCo will be listed as a co-author of the publication. In the event of a refusal by the publisher, the members of the RaDiCo Consortium Agreement will provide the PRS manager or the PRS lead with the list of co-authors."}}},"additional":{"versionLang":"en","originLang":"en","lastUpdatedAuto":"28-10-2026","lastUpdatedManual":"28-10-2026","autoTranslation":true,"status":"Published","respValidation":"","isHealthTheme":true,"isContributorPI":false,"addTeamMember":true,"primaryInvestigator":{"isPIContact":false,"piMail":"christophe.corpechot@aphp.fr","piAffiliation":{"piLabo":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm) \/ UMR_S938"}},"relatedDocument":[],"contactPointLabo":"U933, RaDiCo: Rare Diseases 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, 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. The regions listed are those where centers are open."},"dataTypes":{"clinicalDataDetails":"Demographic data, diagnostic characteristics, medical history related to the pathology, comorbidities not related to the pathology, family history, symptoms, LPAC specific treatments and other, surgical or endoscopic interventions, ....","biologicalDataDetails":"Liver function tests, glucose and lipid parameters, platelet count, prothrombin rate, albuminemia\u2026","isDataInBiobank":true,"biobankContent":["Whole blood","Plasma"],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"Histological data","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryAvailable":true,"variableDictionnaryLink":"The variable dictionary may be made available as part of an approved data access request, in accordance with the procedures in effect within the cohort."},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":false,"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}