Background
obesity, hyperphagia, multiorgan dysfunction, Bardet–Biedl syndrome, BBS, dysfunction of the primary cilia, weight loss
OBESITY, GENETIC DISEASE
Bardet–Biedl syndrome (BBS) is a rare genetic disease of obesity characterized by dysfunction of the primary cilia and associated with multiorgan dysfunction [The hyperphagia and resulting obesity manifesting in individuals with BBS are associated with impaired signaling in the central melanocortin pathway of the hypothalamus, which is a critical component in the control of energy intake and expenditure [Historically, treatment strategies for BBS were primarily symptomatic [Extensive research in the general population has demonstrated that obesity poses a substantial physical and psychosocial burden for patients and caregivers [Because of the limited treatment options for hyperphagia and obesity, there is a need for evidence regarding the impact of weight loss interventions on quality of life in patients with BBS. In Phase 2 and 3 trials of patients with BBS, the MC4R agonist setmelanotide has demonstrated clinically significant reductions in body weight and hunger scores [There is an unmet need for evidence on quality of life in patients with BBS and obesity and on how hyperphagia and obesity management affect HRQOL. To address this, the objective of this sub-study of the Phase 3 trial of setmelanotide was to evaluate changes in HRQOL in adults and children with BBS following 1 year of treatment with setmelanotide.