Studying TMPRSS6 in people with leptin receptor deficiency or genetic lipodystrophy
Looks at TMPRSS6 and metabolic and liver health in rare genetic obesity conditions.
Key facts
- Who runs it
- Azienda Ospedaliero Universitaria Maggiore della Carita
- Where
- Novara, ItalySee the site
- Trial code
- Registry title
- Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD)
- Status
- Recruiting
- People taking part
- 35 people, planned
- Started
- 10 Sept 2026
- Expected to end
- Sept 2029
- Type of study
- Observational
- Record updated
- 22 September 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with leptin receptor deficiency (LEPRD) or genetic leptin deficiency linked to a loss of body fat (lipodystrophy). Participants give a blood sample and their clinical data are collected.
- Age
- 0 to 99 years
- Sex
- Men and women
- Disease stage
- Diagnosis of leptin receptor deficiency (LEPRD), or genetically determined leptin deficiency with generalized or partial lipodystrophy.
- Earlier treatment
- People can be untreated or on treatment with setmelanotide or metreleptin.
- Biomarker or test result
- Genetically determined leptin receptor deficiency or leptin deficiency.
Main reasons for not taking part
- Another form of genetic obesity
- Pregnancy or planned pregnancy during the study
- Liver disease or liver impairment from other causes, including excessive alcohol use
- Genetically determined dyslipidemia from another cause
The registry criteria, word for word
Show all 8 criteriaShow less
Who can take part
- 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
Who cannot take part
- 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
Where in Italy
- AOU Maggiore della Carità - SCDU EndocrinologyNovara, ItalyContact: Flavia Prodam, MD, PhDTaking people
About the trial
What the trial wants to find out
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
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.
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?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD): A New Strategy for Treating Severe Genetic Obesity or Leptin Deficiency
- Plain-language title
- Studying TMPRSS6 in people with leptin receptor deficiency or genetic lipodystrophyGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 13 November 2026.
- Record updated
- 22 September 2026