Conclusions
obesity, BBS, hyperphagia
OBESITY, SYNDROME
BBS is a rare genetic obesity syndrome associated with clinically significant HRQOL burden for patients and their families. There is an unmet need for therapies addressing obesity and underlying hyperphagia in this population. After 1 year of treatment with setmelanotide, clinically meaningful improvements in HRQOL were observed in adult, adolescent, and pediatric patients with BBS across multiple domains, including physical function and psychosocial domains. Clinically meaningful improvement, based on IWQOL-Lite and PedsQL, was observed in 75% of patients who reported impaired HRQOL at baseline. Most patients with no impairment in HRQOL at baseline improved or preserved their health status. Clinically meaningful improvements in weight outcomes were also associated with improvements in HRQOL in adults. At the patient level, improvements were sustained over the 52-week trial period. This study highlights the need to address the high HRQOL burden experienced by patients, and further supports setmelanotide as a targeted treatment strategy for improving weight outcomes and quality of life in this population. The physical and psychosocial effects of BBS on patients and their families are complex and require comprehensive, multidisciplinary support. Additional research and experience in clinical practice is needed to support these findings.