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 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.
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.
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.
The study population will include pediatric and adult patients of both sexes with leptin receptor deficiency (LEPRD) or genetically determined leptin deficiency associated with generalized or partial lipodystrophy. Approximately 35 patients with genetic lipodystrophy and up to 10 patients with LEPRD will be enrolled. Participants may be untreated or receiving setmelanotide or metreleptin.
Cohort
Prospective
Not listed
Circulating Hepatokine Levels
Measurement of circulating hepatokines, including TMPRSS6, in serum and plasma using immunoenzymatic assays such as ELISA or multiplex assays, and assessment of their association with clinical and biochemical parameters related to glucose metabolism, lipid metabolism, and liver health.
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