IMPE Abstracts

Introduction: The melanocortin-4 receptor (MC4R) pathway is an important regulator of energy balance and body weight. Several key genes are associated with the MC4R pathway, including POMC, PCSK1, LEPR, NCOA1, and SH2B1. These genes work in concert within the hypothalamus to regulate leptin signaling and activation of MC4R. However, the molecular mechanisms of these genes and the clinical characteristics of individu...

Bardet-Biedl syndrome (BBS) is a rare disease associated with signaling defects in the melanocortin-4 receptor (MC4R) pathway that lead to hyperphagia, severe obesity, and, consequently, reduced quality of life (QOL). We investigated the impact of setmelanotide, an MC4R agonist, on weight, body composition, hunger, and QOL in a Phase 3 trial of patients with BBS to characterize clinically meaningful and patient-relevant benefit. Patients aged ≥6 years with BBS and obesity w...