[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"leptin-receptor-deficiency-obesity\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:leptin-receptor-deficiency-obesity":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":5},"100657182","targeting-the-hepatic-bmp-smad-pathway-in-leptin-receptor-deficiency-leprd-100657182",false,"NCT07833592","Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD)","Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD): A New Strategy for Treating Severe Genetic Obesity or Leptin Deficiency","THOLD","Inclusion Criteria:\n\n* Male or female participants aged 0 to 99 years.\n* Diagnosis of leptin receptor deficiency (LEPRD) or genetically determined leptin deficiency associated with generalized or partial lipodystrophy.\n* Participants may be untreated or receiving treatment with setmelanotide or metreleptin.\n* Ability and willingness to provide written informed consent. For participants under the legal age, informed consent will be obtained from the parent(s) or legal guardian(s), together with assent from the minor when appropriate.\n\nExclusion Criteria:\n\n* Diagnosis of another form of genetic obesity.\n* Pregnancy or planned pregnancy during the study participation period.\n* Liver disease or hepatic impairment attributable to other causes, including excessive alcohol consumption.\n* Genetically determined dyslipidemia due to another cause.","ALL",{"count":19,"type":20},35,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to learn more about the role of TMPRSS6 in patients with leptin receptor deficiency (LEPRD) or genetic lipodystrophy associated with leptin deficiency. LEPRD is a rare genetic condition that causes severe obesity and excessive hunger, while genetic lipodystrophy is characterized by a loss of body fat and can be associated with severe metabolic problems.\n\nThe main questions it aims to answer are:\n\nIs TMPRSS6 associated with metabolic and liver health in patients with LEPRD or genetic lipodystrophy? Are differences in TMPRSS6 levels or activity associated with blood sugar control, lipid levels, body fat, or liver health?\n\nParticipants will:\n\nProvide a blood sample for the measurement of TMPRSS6 and other metabolic and molecular markers.\n\nHave information from their clinical and laboratory assessments collected for the study.\n\nThis study may help researchers better understand the mechanisms underlying metabolic complications in LEPRD and genetic lipodystrophy and may contribute to the identification of new potential therapeutic targets in the future.",[24],"Leptin Receptor Deficiency Obesity",[26,27,28,29,30],"Leptin receptor deficiency (LEPRD)","TMPRSS6","BMP-SMAD signaling","Glucose metabolism","Lipid metabolism","RECRUITING","2026-09-17",{"date":34,"type":35},"2026-09-22","ACTUAL",{"date":37,"type":20},"2026-09-10",{"date":39,"type":20},"2029-09",{"name":41,"class":42},"Azienda Ospedaliero Universitaria Maggiore della Carita","OTHER"]