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