[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100463779":3},{"organization":4,"armGroups":7,"interventions":8,"overallOfficials":12,"centralContacts":17,"locations":28,"responsibleParty":107,"collaborators":7,"id":109,"slug":110,"hasResults":111,"nctId":112,"briefTitle":113,"officialTitle":114,"acronym":115,"eligibilityCriteria":116,"healthyVolunteers":111,"sex":117,"minAge":118,"maxAge":7,"enrollmentInfo":119,"targetDuration":7,"studyType":122,"phases":7,"briefSummary":123,"conditions":124,"keywords":126,"overallStatus":31,"whyStopped":7,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":137},{"fullName":5,"class":6},"Hospices Civils de Lyon","OTHER",null,[9],{"type":6,"name":10,"description":11,"armGroupLabels":7,"otherNames":7},"Adult subjects with ROSAH syndrome","The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.",[13],{"name":14,"affiliation":15,"role":16},"YVAN JAMILLOUX","Service de medecine interne - Hôpital de la Croix Rousse","PRINCIPAL_INVESTIGATOR",[18,24],{"name":19,"role":20,"phone":21,"phoneExt":22,"email":23},"YVAN JAMILLOUX, MD","CONTACT","04 26 73 26 36","+33","yvan.jamilloux@chu-lyon.fr",{"name":25,"role":20,"phone":26,"phoneExt":22,"email":27},"Nora MARTEL","04 26 73 28 62","nora.martel@chu-lyon.fr",[29,50,65,79,93],{"facility":30,"status":31,"city":32,"state":33,"zip":34,"country":35,"countryCode":36,"cosmosGeoPoint":37,"geoPoint":42,"contacts":43},"Hôpital Nord Croix Rousse","RECRUITING","Lyon","Auvergne-Rhône-Alpes","69004","France","FR",{"type":38,"coordinates":39},"Point",[40,41],4.84789,45.74906,{"lat":41,"lon":40},[44,47],{"name":45,"role":20,"phone":46,"phoneExt":22,"email":23},"Yvan Jamilloux, MD","0426732636",{"name":48,"role":20,"phone":49,"phoneExt":22,"email":27},"Nora +33 Martel, PM","0428732862",{"facility":51,"status":52,"city":53,"state":7,"zip":54,"country":35,"countryCode":36,"cosmosGeoPoint":55,"geoPoint":59,"contacts":60},"service de Genetique - Institut de Biologie Santé PBH-IBS","NOT_YET_RECRUITING","Angers","49000",{"type":38,"coordinates":56},[57,58],-0.55202,47.47156,{"lat":58,"lon":57},[61],{"name":62,"role":20,"phone":63,"phoneExt":22,"email":64},"Dominique BONNEAU, MD","0241353883","DoBonneau@chu-angers.fr",{"facility":66,"status":31,"city":67,"state":7,"zip":68,"country":35,"countryCode":36,"cosmosGeoPoint":69,"geoPoint":73,"contacts":74},"Hôpital de la Pitié Salpétrière","Paris","75013",{"type":38,"coordinates":70},[71,72],2.3488,48.85341,{"lat":72,"lon":71},[75],{"name":76,"role":20,"phone":77,"phoneExt":22,"email":78},"David SAADOUN, MD","0142178042","david.saadoun@aphp.fr",{"facility":80,"status":52,"city":81,"state":7,"zip":82,"country":35,"countryCode":36,"cosmosGeoPoint":83,"geoPoint":87,"contacts":88},"Service D'ophtalmologie","Reims","51000",{"type":38,"coordinates":84},[85,86],4.02853,49.26526,{"lat":86,"lon":85},[89],{"name":90,"role":20,"phone":91,"phoneExt":22,"email":92},"Léo OLORY GARNOTEL, MD","03 26 78 78 78","lolory-garnotel@chu-reims.fr",{"facility":94,"status":52,"city":95,"state":7,"zip":96,"country":35,"countryCode":36,"cosmosGeoPoint":97,"geoPoint":101,"contacts":102},"Service de médecine interne et immunologie clinique","Rennes","35000",{"type":38,"coordinates":98},[99,100],-1.67431,48.11109,{"lat":100,"lon":99},[103],{"name":104,"role":20,"phone":105,"phoneExt":22,"email":106},"Samuel ARDOIS, MD","02 99 28 93 96","samuel.ardois@chu-rennes.fr",{"type":108,"investigatorFullName":7,"investigatorTitle":7,"investigatorAffiliation":7,"oldNameTitle":7,"oldOrganization":7},"SPONSOR","100463779","evaluate-df-003-in-ex-vivo-assays-using-peripheral-blood-mononuclear-cell-from-subjects-with-rosah-syndrome-100463779",false,"NCT05319132","Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome","A Phase 0 Study to Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cells (PBMC) From Subjects With Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and Headache (ROSAH) Syndrome.","ROSAH","Inclusion Criteria:\n\n* Male or female aged over 18\n* Patient with ROSAH syndrome with the confirm T237M mutation\n\nExclusion Criteria:\n\n* person under legal protection or under protectives measures\n* person unable to express consent\n* person in emergency situation (vital or not)\n* person infected by Human Immunodeficiency Virus and\u002For Hepatitis B Virus and\u002For Hepatitis C Virus","ALL","18 Years",{"count":120,"type":121},4,"ESTIMATED","OBSERVATIONAL","Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome.\n\nGenetic variants including T237M have been found in ROSAH Syndrome patients. Our in-house study has found that T237M mutation leads to hyperactivity of ALPK1, which may be the cause of the inflammatory syndromes found in ROSAH Syndrome patients. We hypothesize that T237M mutation ALPK1 cause ROSAH Syndrome and an ALPK1 inhibitor can be a potential therapy for treating this disease. To test our hypothesis, we designed an experiment in which ex vivo peripheral blood mononuclear cells (PBMCs) from ROSAH Syndrome patients will be exposed to a potent ALPK1 inhibitor (DF-003) or placebo. We expect to see downregulation of activated inflammatory genes, chemokine\u002Fcytokines and acute phase proteins in the ROSAH Syndrome patient samples that are exposed DF-003.",[125],"Unrecognized Condition",[127],"ROSAH Syndrome.","2025-08-07",{"date":130,"type":131},"2025-08-08","ACTUAL",{"date":133,"type":131},"2022-09-06",{"date":135,"type":121},"2028-05-06",{"name":5,"class":6},5]