Study of Lipid and Glucose Metabolism in Noonan Syndrome and Related RASopathies Across Ages and Genders

What this Trial Is About

RASopathies, including Noonan syndrome and related disorders, are congenital conditions marked by physical differences, heart defects, bone anomalies, cognitive challenges, and varying risks of pediatric cancers. These conditions involve a shared disruption of the RAS-MAPK pathway and show changes in energy metabolism, such as reduced body fat and feeding problems. This research investigates the lipid and glucose metabolism in individuals with these conditions to improve understanding and patient care. This observational study examines how lipid profiles and glucose metabolism vary by sex, age pre- and post-puberty, and genetic subtype in patients with RASopathies. The study tracks these metabolic factors at multiple time points baseline, 1 year, 2 years, 5 years, and 10 years. Researchers also compare altered lipid levels with associated proteins apo-B and apo-A1 in different forms of RASopathy. Participants aged 2 to 35 years with a confirmed molecular diagnosis of a RASopathy are enrolled. Data collection includes metabolic assessments at scheduled visits over up to 10 years. The main outcome measures focus on changes in lipid and glucose metabolism related to demographics and genotype. The study aims to define the natural history of lipid and glucose changes to support better clinical management for patients.

National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype