[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100539757":3},{"organization":4,"armGroups":7,"interventions":15,"overallOfficials":10,"centralContacts":26,"locations":33,"responsibleParty":57,"collaborators":59,"id":64,"slug":65,"hasResults":66,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":70,"eligibilityCriteria":71,"healthyVolunteers":72,"sex":73,"minAge":10,"maxAge":10,"enrollmentInfo":74,"targetDuration":10,"studyType":77,"phases":10,"briefSummary":78,"conditions":79,"keywords":10,"overallStatus":36,"whyStopped":10,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":90},{"fullName":5,"class":6},"Istituto Auxologico Italiano","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"RTH Syndromes",null,"Patients with THRA or THRB gene mutations",[13,14],"Genetic: NGS sequencing","Diagnostic Test: serological tests",[16,21],{"type":17,"name":18,"description":19,"armGroupLabels":20,"otherNames":10},"GENETIC","NGS sequencing","analysis of candidate genes for RTHs syndromes, transporters defects or gene involved in thyroid hormone metabolism. Whole exome sequencing (WES) in a minority of cases",[9],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":10},"DIAGNOSTIC_TEST","serological tests","assessment of T4, T3 and other TH metabolites (LC-MS) in serum and dried blood spots",[9],[27],{"name":28,"role":29,"phone":30,"phoneExt":31,"email":32},"Luca Persani, Prof","CONTACT","02619112738","039","luca.persani@unimi.it",[34,50],{"facility":35,"status":36,"city":37,"state":10,"zip":38,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"Istituto Auxologico Italiano IRCCS","RECRUITING","Milan","20145","Italy","IT",{"type":42,"coordinates":43},"Point",[44,45],9.18951,45.46427,{"lat":45,"lon":44},[48],{"name":49,"role":29,"phone":10,"phoneExt":10,"email":10},"Irene Campi, MD, PhD",{"facility":51,"status":36,"city":37,"state":10,"zip":10,"country":39,"countryCode":40,"cosmosGeoPoint":52,"geoPoint":54,"contacts":55},"Department of Endocrine & Metabolic Diseases, San Luca Hospital",{"type":42,"coordinates":53},[44,45],{"lat":45,"lon":44},[56],{"name":28,"role":29,"phone":10,"phoneExt":10,"email":10},{"type":58,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[60,62],{"name":61,"class":6},"ASST Fatebenefratelli Sacco",{"name":63,"class":6},"Federico II University","100539757","understanding-diagnosis-and-monitoring-of-thyroid-hormone-action-defects-100539757",false,"NCT06307990","Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects","Advancing Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects (ADAM-THAD)","ADAM-THAD","Inclusion Criteria:\n\n\\- biochemical signature suggestive of RTHs syndromes at birth (a) or symptoms suggestive of RTHs syndromes (b) or known diagnosis of RTHs syndromes (c)\n\nExclusion Criteria:\n\n* none",true,"ALL",{"count":75,"type":76},150,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to learn about the neurological and cardiological phenotype of patients with resistance to thyroid hormone (RTH) syndromes beta and alpha (RTHß and RTHa) due to dominant negative variants in the genes encoding the thyroid hormone receptors alpha (THRA) and beta (THRB).\n\nThe main question\\[s\\] it aims to answer are:\n\n* Define frequency and improve early diagnosis for RTH syndromes\n* Developing tools to accelerate diagnosis of RTH syndromes\n* Development and validation of monitoring tools\n\nParticipants, recruited at neonatal screening or from cohorts of patients with unexplained specific neuro-cognitive or cardiovascular phenotypes will be submitted to biochemical and genetic investigations. In addition pluripotent stem cells will be generated from peripheral blood cells of RTHs patients and studied in vitro to understand the molecular mechanisms underlying neurological and cardiovascular consequences. In vitro and clinical data, will be correlated to identify biomarkers for monitoring treatment.",[80],"Resistance, Thyroid Hormone","2025-08-25",{"date":83,"type":84},"2025-09-02","ACTUAL",{"date":86,"type":84},"2023-01-01",{"date":88,"type":76},"2026-01-31",{"name":5,"class":6},2]