hrp0095p1-472 | Fat, Metabolism and Obesity | ESPE2022

Venture: Design of a Phase 3 Multicenter, 1-Year, Open-Label Trial of Setmelanotide in Pediatric Patients Aged 2 to <6 Years With Rare Genetic Diseases of Obesity

Farooqi Sadaf , Mohamed Iqbal Anoop , Fennoy Ilene , M. Kelsey Megan , F. Verge Charles , Cokkinias Casey , Lee Hak-Myung , Navarria Andrea , Argente Jesús

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

hrp0095rfc4.2 | Fat, Metabolism and Obesity | ESPE2022

Effect of Setmelanotide Treatment in Children and Adolescents With Proopiomelanocortin (POMC) Deficiency, Leptin Receptor (LEPR) Deficiency, and Bardet-Biedl Syndrome (BBS)

Argente Jesús , Kühnen Peter , M. Haqq Andrea , Wabitsch Martin , K. Chung Wendy , van den Akker Erica , Á. Martos-Moreno Gabriel , Mohamed Iqbal Anoop , Forsythe Elizabeth , Dubern Béatrice , Malhotra Sonali , Yuan Goujun , Touchot Nicolas , Dollfus Hélène , Farooqi Sadaf , Clément Karine

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...