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Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD)

Recruitingn/aAges any - anyAllAzienda Ospedaliero Universitaria Maggiore della …
NCT07833592 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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. The main questions it aims to answer are: Is 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? Participants will: Provide a blood sample for the measurement of TMPRSS6 and other metabolic and molecular markers. Have information from their clinical and laboratory assessments collected for the study. This study may help rese

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📋 Eligibility rules (as published)
Inclusion Criteria: * Male or female participants aged 0 to 99 years. * Diagnosis of leptin receptor deficiency (LEPRD) or genetically determined leptin deficiency associated with generalized or partial lipodystrophy. * Participants may be untreated or receiving treatment with setmelanotide or metreleptin. * 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. Exclusion Criteria: * Diagnosis of another form of genetic obesity. * Pregnancy or planned pregnancy during the study participation period. * Liver disease or hepatic impairment attributable to other causes, including excessive alcohol consumption. * Genetically determined dyslipidemia due to another cause.
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What it tests

  • Not listed
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Where

1 site
AOU Maggiore della Carità - SCDU Endocrinology
Novara, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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