[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100534188":3},{"organization":4,"armGroups":7,"interventions":19,"overallOfficials":24,"centralContacts":32,"locations":38,"responsibleParty":59,"collaborators":10,"id":61,"slug":62,"hasResults":63,"nctId":64,"briefTitle":65,"officialTitle":65,"acronym":66,"eligibilityCriteria":67,"healthyVolunteers":63,"sex":68,"minAge":10,"maxAge":10,"enrollmentInfo":69,"targetDuration":10,"studyType":72,"phases":10,"briefSummary":73,"conditions":74,"keywords":10,"overallStatus":41,"whyStopped":10,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},{"fullName":5,"class":6},"Imagine Institute","OTHER",[8,13,16],{"label":9,"type":10,"description":10,"interventionNames":11},"Patients",null,[12],"Other: Biological Samples",{"label":14,"type":10,"description":10,"interventionNames":15},"Controls",[12],{"label":17,"type":10,"description":10,"interventionNames":18},"Unaffected related subjects",[12],[20],{"type":6,"name":21,"description":22,"armGroupLabels":23,"otherNames":10},"Biological Samples","For patients, different types of banked frozen or fresh biological samples will be used in this research:\n\n* Blood\n* Skin biopsy or other tissues (liver, muscle, brain, lung...)\n* Urine\n* Saliva\n* Cerebrospinal fluid\n* Occasionally: operative \"leftovers\" (e.g. muscle, brain, lung tissue)\n\nIn control patients, we would like to collect operative remnants of cell types involved in the inflammatory and\u002For neurological diseases studied in the laboratory, if these patients require surgery as part of their management, and if any biological material remains after surgery. Under the same conditions, a sample of cerebrospinal fluid could be recovered.\n\nFor unaffected relatives, a single blood sample of maximum 10 ml is taken at inclusion, and samples already taken during routine care are used.",[14,9,17],[25,29],{"name":26,"affiliation":27,"role":28},"Yanick Crow, MD PhD","Institut Imagine","PRINCIPAL_INVESTIGATOR",{"name":30,"affiliation":27,"role":31},"Marie-Louise Frémond, MD, Pr","STUDY_CHAIR",[33,36],{"name":26,"role":34,"phone":10,"phoneExt":10,"email":35},"CONTACT","marie-louise.fremond@institutimagine.org",{"name":37,"role":34,"phone":10,"phoneExt":10,"email":35},"Marie-Louise Frémond, MD PhD",[39],{"facility":40,"status":41,"city":42,"state":43,"zip":44,"country":45,"countryCode":46,"cosmosGeoPoint":47,"geoPoint":52,"contacts":53},"Necker enfants malades Hospital","RECRUITING","Paris","Île-de-France Region","75015","France","FR",{"type":48,"coordinates":49},"Point",[50,51],2.3488,48.85341,{"lat":51,"lon":50},[54,57],{"name":55,"role":34,"phone":10,"phoneExt":10,"email":56},"Yannick Crow, MD PhD","yanickcrow@mac.com",{"name":58,"role":34,"phone":10,"phoneExt":10,"email":35},"Marie-Louise Frémond, MD, PhD",{"type":60,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100534188","genotype-phenotype-characterization-study-on-genetic-diseases-with-immune-and-neurological-dysfunctions-100534188",false,"NCT06235580","Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions","IFN","Inclusion criteria\n\n* Patients :\n\n  * Have \u002F present a family history of genetic disease with immune and neurological dysfunction.\n  * Have signed an informed consent form.\n* Unaffected related subjects :\n\n  * Be related to a patient included in this research.\n  * Have signed an informed consent form.\n* Control patients\n\n  * Be free of any genetic disease with immune and neurological dysfunction.\n  * Have undergone surgery as part of their management\n  * Have signed an informed consent form.\n\nNon-inclusion criteria\n\n✓ Be deprived of liberty","ALL",{"count":70,"type":71},1000,"ESTIMATED","OBSERVATIONAL","Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment.\n\nProf. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them.\n\nInitially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.",[75,76,77,78],"Genetic Diseases","Immune Dysfunction","Neurological Disease","Autoimmune Diseases","2025-12-12",{"date":81,"type":82},"2025-12-19","ACTUAL",{"date":84,"type":82},"2015-12-28",{"date":86,"type":71},"2035-12-27",{"name":5,"class":6},1]