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. 2023 May;40(5):2394-2411.
doi: 10.1007/s12325-023-02443-y. Epub 2023 Mar 24.

Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome

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Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome

Claire Ervin et al. Adv Ther. 2023 May.

Abstract

Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway. The impact of hyperphagia on the lives of patients with BBS and their families has not been fully characterized.

Methods: Patients with BBS or their caregivers who participated in clinical trials of the MC4R agonist setmelanotide (NCT03013543 and NCT03746522) were included in this qualitative study. Telephone interviews were conducted using a semistructured interview guide to explore patient experience and caregiver observations of hyperphagia before and during setmelanotide treatment.

Results: Nineteen interviews (8 patients, 11 caregivers) were conducted. The term "hunger" (rather than "hyperphagia") was used in interviews to ensure common terminology. Before setmelanotide treatment, all participants described their (or their child's) hunger as all-consuming, leading to an obsessive focus on food. Nine participants recalled intense, continuous hunger, and most participants (5 patients, 10 caregivers) reported lack of control with eating. Negative impacts on patients' lives included difficulties with concentration, emotional and physical manifestations, and impaired relationships. All participants experienced or observed improvements in hunger and health outcomes during treatment, the most meaningful of which included weight loss and decrease in obsessive focus on food and food-seeking behaviors. All participants reported improvements in either physical and/or emotional well-being and being satisfied with setmelanotide.

Conclusions: Hyperphagia and resulting food-seeking behaviors have notable negative impacts on quality of life in patients with BBS and caregivers. Setmelanotide improved hyperphagia, reduced body weight and obsessive focus on food, and facilitated improvements in physical and emotional well-being for both patients and caregivers.

Trial registration: NCT03013543 and NCT03746522.

Keywords: Bardet-Biedl syndrome; Disease burden; Hyperphagia; MC4R pathway; Quality of life; Setmelanotide.

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Conflict of interest statement

Claire Ervin, Lindsey Norcross, and Sheri Fehnel’s institution received funding from Rhythm Pharmaceuticals, Inc. for this research. Usha G. Mallya, Robert S. Mittleman, and Matthew Webster were or are full-time employees at the time of this research. As full-time employees, they received stock or stock options. Andrea M. Haqq served on an advisory board for Rhythm Pharmaceuticals, Inc. and Pfizer, is a speaker for Pfizer Canada, and is a principal investigator for clinical trials with Rhythm Pharmaceuticals, Inc. and Levo Therapeutics. Robert M. Haws was contracted by Rhythm Pharmaceuticals, Inc. to conduct study trials; received personal and institutional payments from Rhythm Pharmaceuticals, Inc. and Axovia Therapeutics, LLC for consulting, research, lectures, travel, and lodging; and participated on a data safety monitoring board for Rhythm Pharmaceuticals, Inc.

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