Studying TMPRSS6 in people with leptin receptor deficiency or genetic lipodystrophy
Looks at TMPRSS6 and metabolic and liver health in rare genetic obesity conditions.
Plain-language title generated from the registry record
Registry title: Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD)
Key facts
- Where
- Novara, ItalySee the site
Where in Italy
- AOU Maggiore della Carità - SCDU EndocrinologyNovara, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Azienda Ospedaliero Universitaria Maggiore della Carita
- Trial code
- NCT07833592
- Record updated
- 22 September 2026
- Original description
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.Read full original descriptionShow less
Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD): A New Strategy for Treating Severe Genetic Obesity or Leptin Deficiency
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.
Inclusion: 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: Liver disease or hepatic impairment attributable to other causes, including excessive alcohol consumption; Diagnosis of another form of genetic obesity; Pregnancy or planned pregnancy during the study participation period; Genetically determined dyslipidemia due to another cause.