ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. With no approved therapies to treat hyperphagia, disease management requires strict dietary and environmental controls to restrict access to food. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The obje...

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

Introduction: The melanocortin-4 receptor (MC4R) pathway is critical for hunger regulation, energy balance, and weight regulation. In patients with Bardet–Biedl syndrome (BBS), a rare, genetically heterogeneous, and highly pleiotropic disease, the immotile primary cilia are dysfunctional, leading to MC4R pathway impairment. Patients suffer from symptoms including early vision loss, learning difficulties, and renal dysfunction, next to hyperphagia and ear...

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

Introduction: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with hyperphagia and early-onset obesity. Increasing awareness of genetic testing could improve diagnosis and identification of patients who might benefit from novel precision therapies. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing prog...

Introduction: Genetic variants in the melanocortin-4 receptor (MC4R) pathway can lead to hyperphagia and early-onset obesity. Increasing awareness of genetic testing may aid in the diagnosis and identification of patients who could benefit from novel precision therapies. To enhance access to genetic testing for patients with suspected rare MC4R pathway diseases, the Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing program was established...

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...