[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100549549":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":26,"centralContacts":35,"locations":45,"responsibleParty":204,"collaborators":26,"id":206,"slug":207,"hasResults":208,"nctId":209,"briefTitle":210,"officialTitle":211,"acronym":212,"eligibilityCriteria":213,"healthyVolunteers":214,"sex":215,"minAge":216,"maxAge":26,"enrollmentInfo":217,"targetDuration":26,"studyType":220,"phases":221,"briefSummary":223,"conditions":224,"keywords":229,"overallStatus":48,"whyStopped":26,"lastUpdateSubmitDate":234,"lastUpdatePostDateStruct":235,"startDateStruct":238,"completionDateStruct":240,"leadSponsor":242,"locationsCount":243},{"fullName":5,"class":6},"Hospices Civils de Lyon","OTHER",[8,16],{"label":9,"type":10,"description":11,"interventionNames":12},"Patient with with a rare dysimmune disease","EXPERIMENTAL","minors or adults of any age with a rare dysimmune disease characterized by autoimmunity, autoinflammation or early lymphoproliferation, with onset in childhood (\\\u003C18 years), or syndromic or familial.",[13,14,15],"Genetic: Blood sample for genetic analysis","Other: Blood sample for immunological response assessments","Other: Blood sample to identify relevant biomarker of the disease",{"label":17,"type":6,"description":18,"interventionNames":19},"Healthy volunteer participants","minor or adult participant without age restriction weighing more than 5 kg",[14,15],[21,27,31],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":26},"GENETIC","Blood sample for genetic analysis","genetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood",[9],null,{"type":6,"name":28,"description":29,"armGroupLabels":30,"otherNames":26},"Blood sample for immunological response assessments","Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases",[17,9],{"type":6,"name":32,"description":33,"armGroupLabels":34,"otherNames":26},"Blood sample to identify relevant biomarker of the disease","Research biomarkers for diagnosis, prognosis and monitoring of disease activity",[17,9],[36,41],{"name":37,"role":38,"phone":39,"phoneExt":26,"email":40},"BELOT Alexandre, Pr","CONTACT","+ 33 4 27 85 61 26","Alexandre.belot@chu-lyon.fr",{"name":42,"role":38,"phone":43,"phoneExt":26,"email":44},"PLASSART Samira","+ 33 4 27 85 54 42","Samira.plassart@chu-lyon.fr",[46,61,75,85,98,111,121,130,143,156,167,180,192],{"facility":47,"status":48,"city":49,"state":49,"zip":50,"country":51,"countryCode":52,"cosmosGeoPoint":53,"geoPoint":58,"contacts":59},"Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant","RECRUITING","Bron","69500","France","FR",{"type":54,"coordinates":55},"Point",[56,57],4.91303,45.73865,{"lat":57,"lon":56},[60],{"name":37,"role":38,"phone":26,"phoneExt":26,"email":26},{"facility":62,"status":63,"city":64,"state":64,"zip":65,"country":51,"countryCode":52,"cosmosGeoPoint":66,"geoPoint":70,"contacts":71},"Hôpital Jeanne de Flandre (CHU de Lille)","NOT_YET_RECRUITING","Lille","59000",{"type":54,"coordinates":67},[68,69],3.05512,50.63391,{"lat":69,"lon":68},[72],{"name":73,"role":38,"phone":26,"phoneExt":26,"email":74},"REUMAUX Héloïse, MD","Heloise.REUMAUX@chu-lille.fr",{"facility":76,"status":63,"city":64,"state":64,"zip":77,"country":51,"countryCode":52,"cosmosGeoPoint":78,"geoPoint":80,"contacts":81},"Hôpital Claude Huriez (CHU de Lille)","59037",{"type":54,"coordinates":79},[68,69],{"lat":69,"lon":68},[82],{"name":83,"role":38,"phone":26,"phoneExt":26,"email":84},"HACHULLA Éric, MD, PhD","eric.hachulla@chru-lille.fr",{"facility":86,"status":63,"city":87,"state":87,"zip":88,"country":51,"countryCode":52,"cosmosGeoPoint":89,"geoPoint":93,"contacts":94},"Hôpital Archet 2","Nice","06200",{"type":54,"coordinates":90},[91,92],7.26608,43.70313,{"lat":92,"lon":91},[95],{"name":96,"role":38,"phone":26,"phoneExt":26,"email":97},"DE GUILLEBON DE RESNES Jean-Marie, MD","de-guillebon-de-resnes.jm@chu-nice.fr",{"facility":99,"status":63,"city":100,"state":100,"zip":101,"country":51,"countryCode":52,"cosmosGeoPoint":102,"geoPoint":106,"contacts":107},"Hôpital Necker-Enfants Malades (AP-HP)","Paris","75015",{"type":54,"coordinates":103},[104,105],2.3488,48.85341,{"lat":105,"lon":104},[108],{"name":109,"role":38,"phone":26,"phoneExt":26,"email":110},"Bader-Meunier Brigitte, MD","brigitte.bader-meunier@aphp.fr",{"facility":112,"status":63,"city":100,"state":100,"zip":113,"country":51,"countryCode":52,"cosmosGeoPoint":114,"geoPoint":116,"contacts":117},"Hôpital Robert Debré (AP-HP)","75935 Paris",{"type":54,"coordinates":115},[104,105],{"lat":105,"lon":104},[118],{"name":119,"role":38,"phone":26,"phoneExt":26,"email":120},"Meinzer Ulrich, MD, PhD","ulrich.meinzer@aphp.fr",{"facility":122,"status":63,"city":100,"state":100,"zip":123,"country":51,"countryCode":52,"cosmosGeoPoint":124,"geoPoint":126,"contacts":127},"Hôpital Kremlin-Bicêtre (AP-HP)","94270",{"type":54,"coordinates":125},[104,105],{"lat":105,"lon":104},[128],{"name":129,"role":38,"phone":26,"phoneExt":26,"email":26},"Koné-Paut Isabelle, MD, PhD",{"facility":131,"status":63,"city":132,"state":133,"zip":26,"country":51,"countryCode":52,"cosmosGeoPoint":134,"geoPoint":138,"contacts":139},"Hôpital Nord (CHU ST-Etienne)","Saint-Etienne","Saint Etienne",{"type":54,"coordinates":135},[136,137],4.39,45.43389,{"lat":137,"lon":136},[140],{"name":141,"role":38,"phone":26,"phoneExt":26,"email":142},"Franck Zekré, MD","Franck.ZEKRE@chu-st-etienne.fr",{"facility":144,"status":63,"city":145,"state":26,"zip":146,"country":51,"countryCode":52,"cosmosGeoPoint":147,"geoPoint":151,"contacts":152},"Hôpital Couple Enfant","Grenoble","38043",{"type":54,"coordinates":148},[149,150],5.71479,45.17869,{"lat":150,"lon":149},[153],{"name":154,"role":38,"phone":26,"phoneExt":26,"email":155},"PAGNIER Anne, MD","apagnier@chu-grenoble.fr",{"facility":157,"status":48,"city":100,"state":26,"zip":158,"country":51,"countryCode":52,"cosmosGeoPoint":159,"geoPoint":161,"contacts":162},"Dr Isabelle MELKI","75012",{"type":54,"coordinates":160},[104,105],{"lat":105,"lon":104},[163],{"name":164,"role":38,"phone":165,"phoneExt":26,"email":166},"MELKI Isabelle","00331 44 73 64 88","isabelle.melki@aphp.fr",{"facility":168,"status":63,"city":169,"state":26,"zip":170,"country":51,"countryCode":52,"cosmosGeoPoint":171,"geoPoint":175,"contacts":176},"CLCC Henri Becquerel","Rouen","76038",{"type":54,"coordinates":172},[173,174],1.09932,49.44313,{"lat":174,"lon":173},[177],{"name":178,"role":38,"phone":26,"phoneExt":26,"email":179},"JARDIN Fabrice, MD, PhD","fabrice.jardin@chb.unicancer.fr",{"facility":181,"status":48,"city":182,"state":26,"zip":26,"country":51,"countryCode":52,"cosmosGeoPoint":183,"geoPoint":187,"contacts":188},"Pr Ariane ZALOSZYC","Strasbourg",{"type":54,"coordinates":184},[185,186],7.74553,48.58392,{"lat":186,"lon":185},[189],{"name":190,"role":38,"phone":26,"phoneExt":26,"email":191},"ZALOSZYC Ariane","ariane.zaloszyc@chru-strasbourg.fr",{"facility":193,"status":48,"city":194,"state":26,"zip":26,"country":51,"countryCode":52,"cosmosGeoPoint":195,"geoPoint":199,"contacts":200},"Dr Vanessa Remy-Piccolo","Villefranche-sur-Saône",{"type":54,"coordinates":196},[197,198],4.71961,45.98967,{"lat":198,"lon":197},[201],{"name":202,"role":38,"phone":26,"phoneExt":26,"email":203},"Remy-Piccolo Vanessa","vremypiccolo@hno.fr",{"type":205,"investigatorFullName":26,"investigatorTitle":26,"investigatorAffiliation":26,"oldNameTitle":26,"oldOrganization":26},"SPONSOR","100549549","biocollection-of-rare-pediatric-onset-of-autoimmune-and-autoinflammatory-diseases-100549549",false,"NCT06435468","Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases","Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases","GENIALII","Inclusion Criteria:\n\n* Patients\n* minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years), or syndromic or familial\n* relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years of age) or syndromic or familial,\n* weight greater than 5 kg\n* Patient\u002Fparents\u002Fguardians who were informed of the study and signed the consent form.\n* patient affiliated to a social security scheme\n\nHealthy volunteer participants\n\n* minor or adult participants with no age restrictions\n* weight over 5 kg\n* Subject \u002FParents\u002Fguardians who were informed of the study and signed a consent form.\n* Patient affiliated to a social security scheme\n\nExclusion Criteria:\n\nPatients\n\n\\- Subjects \u002FParents\u002Fguardians, refusing to participate in the study\n\nHealthy volunteer participants :\n\n* active infection (viral, bacterial, parasitic)\n* history of neoplasia (\\\u003C 5 years) or current neoplasia\n* participants with a personal or family history of autoimmune disease\n* immunocompromised participant (immune deficiency or transplant recipient)\n* Subjects\u002Fparents\u002Fguardians refusing to participate in the study\n* Adults under legal protection (guardianship, curatorship)",true,"ALL","1 Year",{"count":218,"type":219},400,"ESTIMATED","INTERVENTIONAL",[222],"NA","Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.\n\nThis study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.",[225,226,227,228],"Systemic Lupus","Autoimmune Diseases","Autoinflammatory Disease","Genetic Disease",[225,230,231,232,233],"Genetic","rare autoimmune disease","rare autoinflammatory diseases","Pediatric-onset disease","2025-12-15",{"date":236,"type":237},"2025-12-22","ACTUAL",{"date":239,"type":237},"2025-02-26",{"date":241,"type":219},"2035-07-27",{"name":5,"class":6},13]