Endocrine Abstracts

JOINT473

Background: Bardet-Biedl syndrome (BBS) is a rare genetic disease resulting from dysfunctional cilia, and is marked by numerous symptoms, among which hyperphagia and early-onset obesity, that can adversely impact the quality of life for both patients and caregivers. The MC4R agonist setmelanotide has demonstrated clinically meaningful weight and hunger reductions in patients with obesity due to BBS. In this study, we evaluated real-world patient expectations and experiences before and during treatment with setmelanotide, as well as the use of a patient support program.

Methods: A one-time survey was conducted online to capture the real-world experiences of patients with BBS and their caregivers with setmelanotide treatment and the patient support program, designed to educate patients and caregivers to allow them to administer injections independently. The survey, including yes/no questions, Likert scale questions and free text questions, was fielded from January 2024 to May 2024, involving participants who began treatment between June 2023 and December 2023 at a single centre in Germany.

Results: Ten paediatric patients, 13 adult patients, and 12 caregivers participated in the study. Prior to treatment, paediatric patients reported experiencing insatiable hunger (80%) and obesity (50%) as their most prevalent symptoms; for adult patients, these were vision loss (69%) and obesity (69%); and caregivers reported obesity (92%) and insatiable hunger (83%). Treatment with setmelanotide had a positive effect on reducing body weight, with ≥92% of all participants reporting feeling less hunger, feeling satiated after meals, and stable body weight or weight loss. Furthermore, to various degrees, patients and caregivers reported improvements in mobility, mood, and behaviour. Negative effects of treatment perceived the most were changes in skin pigmentation, (initial) vomiting, diarrhoea and nausea. The personalized approach with the patient support program led to high patient and caregiver satisfaction, with over half of patients/caregivers being able to administer the drug independently at the end of the study period. There was high treatment adherence, no patients discontinuing setmelanotide treatment and an excellent rating of the service by all respondents.

Conclusions: This real-world survey of patients with BBS and their caregivers further demonstrated the meaningful benefits of setmelanotide in improving insatiable hunger and obesity. Personalized nursing support at the initiation of treatment onwards can further facilitate high rates of treatment adherence and satisfaction.