NCT07833592Recruiting
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
Source: ClinicalTrials.gov · Last updated 22 Sept 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 35 (estimated)
- First submitted
- 7 Sept 2026
- Start date
- Sept 2026
- Primary completion date
- Sept 2028
- Lead sponsor
- Azienda Ospedaliero Universitaria Maggiore della Carita
- Diseases
- Obesity
- NCT number
- NCT07833592
What you commit to
- Study type: Observational
- Planned participants: 35
- From Sept 2026 to the primary completion date, Sept 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Liver disease or hepatic impairment attributable to other causes, including excessive alcohol consumption.
Other
- Diagnosis of another form of genetic obesity.
- Pregnancy or planned pregnancy during the study participation period.
- Genetically determined dyslipidemia due to another cause.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| AOU Maggiore della Carità - SCDU Endocrinology Coordinator of this site? Confirm its status | Novara | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.