Evaluating Setmelanotide Treatment for Bardet-Biedl Syndrome and Severe Genetic Obesity in Real-World Clinical Practice A Prospective Study on Effectiveness, Safety, and Patient-Reported Outcomes

What this Trial Is About

This research aims to evaluate the use of setmelanotide, a melanocortin-4 receptor MC4R agonist, in people with Bardet-Biedl syndrome BBS and other rare genetic disorders causing severe early-onset obesity and excessive hunger. These conditions involve defects in the MC4R pathway, which regulates appetite and energy balance. While clinical trials have shown setmelanotides effects, this study focuses on understanding its impact under real-world clinical conditions, including safety and patient experience. Participants will receive setmelanotide according to approved labeling and their physicians discretion, reflecting routine clinical practice. The study is designed as a registry to collect long-term data on setmelanotide treatment and may include other MC4R agonists as they become available. Data collection occurs during regular outpatient visits at University Hospital Essen, tracking treatment persistence and metabolic outcomes. Throughout the study, participants will have routine clinical assessments including body weight, BMI, lipid profiles, liver fat measurements, and quality of life evaluations. Researchers will also monitor safety, tolerability, cognitive changes, brain connectivity, and hormonal changes over several years, with outcome measurements taken up to 72 months. The study gathers both clinical and patient-reported data to understand treatment effects in everyday care.

Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity