IMPE Abstracts

Objective: To evaluate the long-term safety and effectiveness of daily growth hormone (Norditropin®; somatropin) in Japanese children with short stature due to Noonan syndrome (NS).Methods: This post-marketing, prospective, non-interventional, Japanese multicentre study (NCT03435627) was conducted in a real-world setting from February 2018 to April 2022. Among the 70 enrolled patients, 35 received Norditropin® on...

Monogenic obesity is a rare, severe condition, associated with early-onset weight gain. In the last years, due to advances in genetic technique and sequencing technology, an increasing number of variants causing monogenic obesity has been described, mostly genes encoding components of leptin-melanocortin pathways. The accessory protein MRAP2 (Melanocortin Receptor Accessory Protein 2) acts in body weight regulation and its inactivation is associated with early-onset severe obe...

Background: The central melanocortin system is involved in metabolic control, receiving, and integrating metabolic signals, such as leptin. Biallelic mutations in several genes of this pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of the melanocortin system contribute to the development of obesity is poorly explored.Objectives: To explore the...