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Targeting the Hepatic BMP-SMAD Pathway in Leptin Receptor Deficiency (LEPRD)

Study acronym: THOLD
StatusRecruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

  1. Study First Submitted
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.
Trial Details
NCT Number NCT07833592
Lead Sponsor Azienda Ospedaliero Universitaria Maggiore della Carita
Conditions
(from sponsor)		 Leptin Receptor Deficiency Obesity
Enrollment 35 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov