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hrp0094fc2.1 | Fat, Metabolism and Obesity | ESPE2021

Efficacy and Safety Results of a Phase 2 Trial of Setmelanotide in Obesity Due to SH2B1 Variants and 16p11.2 Deletion Syndrome

Argente Jesus , Farooqi Sadaf , Oral Elif , Goldstone Anthony , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Stewart Murray , Chung Wendy ,

Background: Variants in SH2B1 or a 220kilobase 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...

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hrp0097fc8.2 | Fat, metabolism and obesity 2 | ESPE2023

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity

P. Goldstone Anthony , Dominguez-Riscart Jesus , Rosaria Umano Giuseppina , Pinhas-Hamiel Orit , Yildiz Melek , Manco Melania , Sleiman Patrick , Savoie Charles , Giri Dinesh , Argente Jesús

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...

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ESPE Abstracts

Efficacy and Safety Results of a Phase 2 Trial of Setmelanotide in Obesity Due to SH2B1 Variants and 16p11.2 Deletion Syndrome

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity

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