Forsythe E, Haws RM, Argente J, Beales P, Chirila C, Clement K, Dollfus H, Martos-Moreno GA, Gnanasakthy A, Buckley BC, Mallya U, Haqq AM. Quality of life in patients with bardet-biedl syndrome in a setmelanotide phase 3 trial. Poster presented at the 2021 Obesity Week Virtual Conference; November 1, 2021.

BACKGROUND: Bardet-Biedl Syndrome (BBS) is an ultra-rare disease characterized by a range of features, including early-onset obesity and hyperphagia. Obesity and hyperphagia can negatively impact quality of life (QOL) for patients and their families. In a Phase 3 trial, setmelanotide was associated with significant body weight and hunger reduction in patients with BBS. Here, we demonstrate the impact of setmelanotide on QOL as reported by patients with BBS.

METHODS: A Phase 3 trial (NCT03746522) investigated the effects of setmelanotide in individuals with BBS and obesity (weight >

97th percentile for those aged 6–15 years; body mass index ≥30 kg/m2 for those aged ≥16 years). QOL was investigated using the Impact of Weight on Quality of Life Questionnaire-Lite (IWQOL-Lite; adults aged ≥18 years) or the Pediatric Quality of Life Inventory (PedsQL; children aged ≤17 years). Hunger was assessed using patient self-reports in patients without cognitive impairment. Here, to report QOL improvement in conjunction with hunger, only patients without cognitive impairment were analyzed.

RESULTS: Moderate-to-severe disease-specific impairment in QOL at baseline was seen in 6 of 7 adults (86%) on the basis of the IWQOL-Lite total score. At Week 52 of setmelanotide, 6 of 7 adults (86%) had clinically meaningful improvement in IWQOL-Lite total score, with a mean (SD) change from baseline of 17.57 (6.30) and a percent change in worst hunger score ranging from −77.0% to −4.8%. Adults had a mean (SD) percent change in body mass index (BMI) at Week 52 of −10.08% (7.92%). At Week 52, 1 of 3 children (33%) reported a clinically meaningful improvement in PedsQL with a mean (SD) change from baseline of 1.15 (4.51) and percent change in worst hunger score ranging from −64.1% to −30.2%. Children had a mean (SD) percent change in BMI Z score of −48.63% (34.99%).

CONCLUSIONS: Patients with BBS have impaired QOL, and reported substantial improvements after 1 year of treatment with setmelanotide.

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