Understanding how TMPRSS6 relates to liver and metabolism in LEPRD and lipodystrophy
Official title: Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD): A New Strategy for Treating Severe Genetic Obesity or Leptin Deficiency
Run by Azienda Ospedaliero Universitaria Maggiore della Carita · NCT07833592 · Data updated 2026-11-12
This observational study tests whether TMPRSS6 levels or activity relate to blood sugar, lipids, body fat, and liver health in people with leptin receptor deficiency or genetic lipodystrophy.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 35 (estimated) |
| Sponsor | Azienda Ospedaliero Universitaria Maggiore della Carita Academic / other |
| Locations | 1 site (Novara, Italy) |
| Status | Recruiting |
| Started | September 10, 2026 |
| Main results expected | September 2028 |
| Study ends | September 2029 |
| Registry record updated | September 22, 2026 |
| Trial ID | NCT07833592 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Individuals of any age with LEPRD or genetically determined leptin deficiency-associated lipodystrophy, including those on setmelanotide or metreleptin.
✕Probably not a fit
Participants without these rare conditions or those not showing TMPRSS6-related signals may not experience direct personal benefits.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study collects blood samples and clinical data from participants with LEPRD or genetically determined leptin deficiency-related lipodystrophy to explore the role of TMPRSS6 in metabolic and liver health. Researchers will measure TMPRSS6 and other metabolic markers and analyze how these relate to glucose control, lipid levels, body fat distribution, and liver status. The goal is to better understand mechanisms driving metabolic complications in these rare conditions and to identify potential new targets for treatment. Participation is observational and involves no assigned interventions beyond standard care and study blood work. Adults and children with LEPRD or related lipodystrophy, including those on setmelanotide or metreleptin, may contribute data.
Why it matters
Potential benefit: If successful, the study could reveal new biological pathways that influence metabolic and liver health in LEPRD and lipodystrophy, informing future therapies.
How similar studies have gone: There is limited prior work directly linking TMPRSS6 and metabolic/liver outcomes in LEPRD or lipodystrophy; this represents a relatively novel observational exploration.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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AOU Maggiore della Carità - SCDU Endocrinology
Novara, Italy, Italy Recruiting
Study contacts
- Study coordinator: Flavia Prodam, MD, PhD
- Email: flavia.prodam@med.uniupo.it
- Phone: +39-0321-660693
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.