ESPE Abstracts

Background: Alström syndrome (AS) is a rare genetic ciliopathy characterized by severe early-onset obesity, hyperphagia, retinal dystrophy, hearing loss, and cardiomyopathy. Rodent studies suggest that cilia play an important role in the leptin-MC4R pathway, which regulates energy balance and body weight. Setmelanotide, a peptide agonist of the MC4R, has led to weight loss in individuals affected by other rare genetic obesity disorders resulting from dysfunction in this p...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...