RF24 | PSUN91 Body Mass Index and Weight Reduction in Patients With SH2B1 Genetic Variant Obesity After One Year of Setmelanotide

ABSTRACT: Abstract

Background

SH2B adaptor protein 1 (SH2B1) binds to Janus kinase 2 and enhances leptin signaling through the central melanocortin-4 receptor (MC4R) pathway, a key regulator of energy balance. Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with hyperphagia (pathologic insatiable hunger), severe early-onset obesity, reduced final height, and insulin resistance. Setmelanotide, an MC4R agonist, produced significant weight and hunger reduction after 3 months in patients with SH2B1 heterozygous variants or 16p11.2 deletion in a Phase 2 study. This analysis is the first to assess the continued efficacy of ∼1 year of setmelanotide treatment in patients with SH2B1 genetic obesity.

Methods

Patients aged ≥6 yea

SUBMITTER:  

PROVIDER: S-EPMC9624738 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature