{"doc_desc":{"title":"Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives","idno":"FRESH-PEF73380-en","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73380-en","IDno":{"metadata_no":[{"agency":"FReSH","code":"FRESH-PEF73380"},{"agency":"N\u00b0Gestionnaire INSERM ","code":"C20-58"},{"agency":"ClinicalTrials.gov ID","code":"NCT06036719"},{"agency":"R\u00e9f\u00e9rence CPP","code":"2021-ND22-cat.3"}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives","alternate_title":"RaDiCo-ILD2"},"study_authorization":{"agency":[{"name":"CPP"},{"name":"Other"}]},"authoring_entity":[{"name":"Vincent;COTTIN","firstname":"Vincent","lastname":"COTTIN","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0002-5591-0955","role":"pi id"},{"title":"IdRef","uri":"166774731","role":"pi id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"200423481K","role":"labo id"}],"email":"vincent.cottin@chu-lyon.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm UMR754","isContact":false},{"name":"Nadia;NATHAN","firstname":"Nadia","lastname":"NATHAN","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0001-5149-7975","role":"pi id"},{"title":"IdRef","uri":"081559410","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"RNSR","uri":"200918538R","role":"labo id"}],"email":"nadia.nathan@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"","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":"RespiFIL, the French rare disease healthcare network for rare respiratory diseases; Fondation du Souffle.","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":"ROR","uri":"https:\/\/ror.org\/00rbzpz17"},{"title":"SIREN","uri":"130002504"}]},{"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"}]},{"name":"Fondation du Souffle"},{"name":"Fili\u00e8re RespiFIL"},{"name":"BOEHRINGER INGELHEIM INTERNATIONAL GMBH","extlink":[{"title":"SIREN","uri":"508241882"}]}]},"distribution_statement":{"contact":[{"name":"Khalil;BRAMKI","lastname":"BRAMKI","firstname":"Khalil","type":"contact","email":"ild2@radico.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"200918538R ","role":"labo id"}]}]},"study_info":{"keywords":[{"keyword":"Rare Diseases"},{"keyword":"Interstitial Lung Diseases"},{"keyword":"Diffuse Interstitial Lung Diseases"},{"keyword":"Cohort"},{"keyword":"Pulmonology"},{"keyword":"Idiopathic interstitial pneumonias (IIP)"},{"keyword":"Chronic fibrosing interstitial lung diseases with a progressive phenotype (PF-ILD)"},{"keyword":"Telomeres"},{"keyword":"Quality of life"},{"keyword":"Genetics"}],"topics":[{"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":"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":"Other interstitial pulmonary diseases","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1003222483"}]},{"topic":"Idiopathic pulmonary fibrosis","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1074069640"}]},{"topic":"Systemic sclerosis with lung involvement","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1789182887"}]},{"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: Housing","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Education level","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Age","vocab":"health determinant"},{"topic":"Environmental determinants","vocab":"health determinant"},{"topic":"Environmental determinants: Other","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Behavioral determinants: Addiction","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants: Sex","vocab":"health determinant"},{"topic":"Other","vocab":"health determinant"},{"topic":"Active or passive smoking; exposure to materials or substances such as silica, asbestos, clay and wood; place of residence and type of housing.","vocab":"other environmental determinant"},{"topic":"Clinical and laboratory data and biomarkers studied in the context of the characterization and progression of interstitial lung diseases, including laboratory tests, pulmonary function data, and the identification and validation of biomarkers for diagnosis and progression.","vocab":"other determinant"}],"purpose":"The primary objective of the RaDiCo-ILD2 cohort is to describe the phenotypic characteristics of pediatric and adult patients with idiopathic interstitial pneumonias (IIP), other chronic fibrosing interstitial lung diseases with a progressive phenotype, or interstitial lung disease associated with systemic sclerosis (SSc-ILD), as well as of their relatives, throughout the study period. These data will make it possible to describe the natural history of the different forms of IIP in patients, and to assess the penetrance of known genetic variants and the prevalence of IIP among relatives of patients carrying mutations in genes involved in telomere regulation, in particular TERT, TERC, RTEL1, PARN, TINF2 and DKC1, as well as in any other genes identified subsequently.\r\n\r\nIn patients with IIP, other chronic fibrosing interstitial lung diseases with a progressive phenotype, or SSc-ILD, the research also aims to identify the genetic factors involved in disease onset and progression, to investigate the extent to which environmental factors and comorbidities may influence disease severity and course, and to identify and validate biomarkers for disease diagnosis and progression. It also aims to assess the impact of SARS-CoV-2 on disease progression.\r\n\r\nIn relatives of mutation carriers, the study aims to determine and characterize the association between carrying a mutation and developing interstitial lung disease, and to assess the frequency and characteristics of extrapulmonary manifestations specific to the mutations studied, in particular hepatic, hematological, immunological and cutaneous involvement, and their association with the presence of the mutation. It also aims to assess the frequency and characteristics of pulmonary and extrapulmonary conditions suspected of being associated with these mutations, in particular pulmonary emphysema, infertility, cancers and osteoporosis, as well as their association with mutation status.\r\n\r\nFinally, the research aims to compare the characteristics of relatives according to the status of each condition, to identify the respective risk factors of the most frequent conditions, in particular interstitial lung disease, mutation-specific extrapulmonary manifestations and suspected pulmonary and extrapulmonary conditions, and to describe the chronological course of abnormalities, notably through a 5-year reassessment of mutation carriers who were initially healthy and asymptomatic.","abstract":"The RaDiCo-ILD2 cohort results from the requalification and extension of the RaDiCo-PID cohort, which was initially dedicated to diffuse interstitial lung diseases (PID) in children and adults. It is an observational, longitudinal, multicenter study, conducted both retrospectively and prospectively, dedicated to idiopathic interstitial pneumonias (IIP), chronic fibrosing interstitial lung diseases with a progressive phenotype (PF-ILD) and interstitial lung diseases associated with systemic sclerosis (SSc-ILD). It includes pediatric and adult patients, as well as first-degree relatives of patients with familial pulmonary fibrosis carrying mutations in telomere-related genes. Patients already enrolled in the RaDiCo-PID cohort continue their follow-up within RaDiCo-ILD2, in the same database.\r\n\r\nThis research aims to better characterize the natural history and the clinical and biological features of the different forms of interstitial lung disease over time. In patients, the data collected include family history, clinical and biological parameters, imaging data, pulmonary function tests, any pathological examinations, assessment of other organ functions, and treatments. For incident patients, data are collected at enrollment and then annually during follow-up. For prevalent patients, data available since diagnosis or the first measurement may be collected retrospectively and then completed during follow-up.\r\n\r\nThe research also aims to study the genetic and environmental factors and comorbidities that may be associated with disease onset, severity and progression. It includes the identification and validation of candidate biomarkers for diagnosis and progression, notably MMP7, SP-A, SP-D, KL-6 and MUC5B, as well as the assessment of the impact of SARS-CoV-2, particularly with regard to diagnostic procedures, symptoms, medical management and treatments.\r\n\r\nIn first-degree relatives of patients carrying a mutation in a telomere-related gene, the study aims to assess the association between mutation status and the development of interstitial lung disease. It also makes it possible to study the frequency and characteristics of mutation-specific extrapulmonary manifestations, in particular hematological and immunological, hepatic and cutaneous involvement. Certain pulmonary and extrapulmonary conditions that may be associated with these mutations are also studied, notably pulmonary emphysema, infertility, osteopenia or osteoporosis, and cancers.\r\n\r\nThe cohort thus includes pediatric and adult patients, as well as relatives of patients carrying genetic mutations. The data collected notably include demographic, clinical, biological, genetic, radiological and pulmonary function data, as well as information on treatments, comorbidities and environmental factors. Questionnaires are also used to assess quality of life, respiratory symptoms and their impact, notably the SF-36, the SF-10, the St George's Respiratory Questionnaire (SGRQ), the L-PF Symptoms, the L-PF Impacts and the K-BILD.\r\n\r\nThe cohort will thus provide longitudinal data to better understand the natural history and course of interstitial lung diseases, to identify the genetic, environmental and clinical factors associated with their development and progression, and to better characterize the pulmonary and extrapulmonary manifestations related to mutations in telomere-related genes. The results will contribute to improving knowledge of these rare lung diseases and to improving their diagnosis, follow-up and management.","coll_dates":[{"start":"2017-03-28","end":"2031-05-07"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Auvergne Rh\u00f4ne-Alpes','Bourgogne Franche-Comt\u00e9','Bretagne','Centre-Val de Loire','Grand Est','Hauts-de-France','Ile-de-France','Normandie','Nouvelle-Aquitaine','Occitanie','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\": \"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            \"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\": \"For patients:\\r\\n- Confirmed diagnosis of idiopathic interstitial pneumonia (IIP), based on clinical, radiological, functional and, where available, pathological data.\\r\\n- For patients with PF-ILD: diagnosis of a fibrosing interstitial lung disease other than idiopathic pulmonary fibrosis (IPF), established by multidisciplinary discussion, with fibrotic involvement \u2265 10% on HRCT, disease progression despite appropriate management, assessed over a period of up to 24 months, and worsening not attributable to pulmonary embolism, decompensated heart failure or lower respiratory tract infection. Progression is defined by:\\r\\no a relative decline in FVC of at least 10% of the predicted value, with or without clinical deterioration; or\\r\\no a combination of at least two of the following: a relative decline in FVC of between 5% and 10% of the predicted value, worsening of respiratory symptoms, and increased extent of pulmonary fibrosis on chest CT.\\r\\n- For patients with SSc-ILD: diagnosis of systemic sclerosis according to the American College of Rheumatology and European League Against Rheumatism criteria, with a total score \u2265 9 and lung involvement \u2265 10% on HRCT.\\r\\nFor relatives:\\r\\n- Being a first-degree relative of a patient carrying a mutation in the TERT, TERC, RTEL1, TINF2, DKC1 or PARN genes, or in other telomere-related genes that may be identified subsequently.\\r\\nFor all groups:\\r\\n- The participant and, for pediatric patients, the parent or legal representative do not object to the collection of their data within the framework of the protocol.\\r\\n- Being affiliated with the French national health insurance scheme.\",\n    \"clusion_E\": \"For patients:\\r\\nPatients with interstitial lung disease related to drug toxicity, primary immunodeficiency, a proliferative disorder (in particular histiocytosis) or a metabolic disease.\\r\\nPatients (or their legal representatives for minor participants) who do not understand the information relating to the study or who are not able to understand the protocol.\\r\\n\\r\\nFor relatives:\\r\\nPersons under 18 years of age.\\r\\nPregnant women.\\r\\n\\r\\nFor all participants:\\r\\nPersons without coverage by a health insurance scheme.\\r\\nPersons subject to a legal protection measure.\"\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','Socio-demographic data','Environmental \/ exposure data','Genetic \/ genomic data','Participant-reported health data']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs)']","committee":"Steering Committee:\r\nVincent Cottin, Nadia Nathan, Hilario Nunes, Rapha\u00ebl Borie, and RaDiCo.\r\nScientific Committee:\r\nVincent Cottin, Nadia Nathan, Hilario Nunes, St\u00e9phane Jouneau, Lidwine Wemeau, Rapha\u00ebl Borie, Bruno Crestani, Jacques Cadranel, Philippe Bonniaud, Jean-Christophe Dubus, Martine Reynaud-Gaubert, Rapha\u00ebl Hindre, and RaDiCo.","governance":""}],"other_quality_statement":"['Data quality is ensured within the framework of the Data Management Plan and the Data Validation Plan, with continuous data management. Data collected in the e-CRF undergo consistency and completeness checks, notably through automatic control rules and a query system. Checks are performed to identify missing or inconsistent data, or data requiring clarification from the investigating centers. Corrections are made after verification with the centers 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":"Clinical and biological characteristics of idiopathic interstitial pneumonias (IIP), chronic fibrosing interstitial lung diseases with a progressive phenotype (PF-ILD) and systemic sclerosis-associated interstitial lung disease (SSc-ILD), assessed over time in pediatric and adult patients."},{"activity_type":"secondary evaluation","activity_description":"The secondary endpoints focus on identifying the genetic factors involved in the onset and progression of the disease, assessing the influence of environmental factors and comorbidities on disease severity and course, and identifying and validating candidate biomarkers for diagnosis and disease progression, including MMP7, SP-A, SP-D, KL-6, and MUC5B. They also include an assessment of the impact of SARS-CoV-2 on disease progression, particularly with regard to diagnostic methods, symptoms, medical management, and treatments. In relatives of patients with a mutation, the criteria include an assessment of the relationship between the mutations and the development of diffuse interstitial pneumonia, as well as the frequency and characteristics of mutation-specific extrapulmonary manifestations, particularly hematological, immunological, hepatic, and cutaneous ones. The frequency and characteristics of pulmonary and extrapulmonary manifestations suspected of being associated with the mutations are also evaluated, including pulmonary emphysema, infertility, osteopenia or osteoporosis, and cancers."}]},"method":{"data_collection":{"time_method":"Other","frequency":"For patients recruited during the first part of the study: data collection at baseline, 6 months, 1 year, and 2 years. For patients who signed a consent form during the second part of the study: data collection at baseline, 6 months, 1 year, 2 years, 3 years, 4 years, and 5 years. For relatives: at baseline and at 5 years.","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\":\"SelfAdministeredQuestionnaire\"},\"value\":\"Self-administered questionnaire\"}"],"research_instrument":"Access on specific project only","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":[]}],"target_sample_size":"[1000-10000[ individuals","response_rate":"3060 as of 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 \u201cHealth Data Host\u201d (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 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 defined by the cohort.","conditions":"In accordance with the cohort's Resource Access Charter, requests must be submitted as a research project synopsis to ild2@radico.fr (reviewed within 1 month by the RaDiCo-ILD2 Scientific Committee). Requests for access to RaDiCo-ILD2 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":"Khalil;BRAMKI","firstname":"Khalil","lastname":"BRAMKI","email":"ild2@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 PRS Agreement.","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 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 Promoter. 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 PRS Manager or the PRS Lead with the list of co-authors."}}},"additional":{"versionLang":"en","originLang":"en","lastUpdatedAuto":"07-10-2026","lastUpdatedManual":"07-10-2026","autoTranslation":false,"status":"Published","respValidation":"","isHealthTheme":true,"isContributorPI":false,"addTeamMember":true,"primaryInvestigator":{"isPIContact":false,"piMail":"nadia.nathan@aphp.fr","piAffiliation":{"piLabo":""}},"relatedDocument":[],"contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","obtainedAuthorization":{"otherAuthorizingAgency":["","MR003"]},"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Public (France)","Private non-profit","Other","Industry"],"otherFundingAgentType":["","","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":true},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":true,"allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[{"name":"Routine care","type":"Other","typeOther":"Standard medical care as part of usual care, including treatments and interventions performed according to clinical practice."}],"cohortLongitudinal":{"recrutementTiming":[]},"otherResearchType":{"otherResearchTypeDetails":""},"inclusionGroups":[{"name":"Patients","description":"Patients with the lung disease under study."},{"name":"Relatives","description":"Healthy individuals with a first-degree relative who has an eligible lung disease and a mutation in an eligible telomere or surfactant gene."}],"nrInclusionGroups":false,"collectionProcess":{"collectionModeDetails":"Data are collected retrospectively and prospectively from medical records and existing databases, then entered into the cohort's e-CRF via secure web access, with secure data hosting by a certified health data host (HDS). Prospective data are collected during routine follow-up visits, with no additional examination specifically required by the study. Questionnaires are also collected to assess quality of life, respiratory symptoms and their impact, notably the SF-36, the SF-10, the St George's Respiratory Questionnaire (SGRQ), the L-PF Symptoms, the L-PF Impacts and the K-BILD.","collectionModeOther":""},"dataCollection":{"inclusionStrategy":[],"samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"Complete national coverage through the network of rare pulmonary disease reference and competence centers"},"dataTypes":{"clinicalDataDetails":"Data on the clinical history of the disease, personal and family history, diagnosis, respiratory manifestations, extrapulmonary involvement, comorbidities, clinical events, as well as treatments and disease course.","biologicalDataDetails":"Laboratory data collected during patient follow-up, notably hematological, biochemical, immunological, serological and electrolyte parameters, iron status and vitamin D, as well as data on the biomarkers studied.","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryAvailable":true,"variableDictionnaryLink":"The data dictionary can be made available as part of a validated data access request, in accordance with the cohort's procedures."},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":false,"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}