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

RASopathies are a group of congenital malformative syndromes, including Noonan syndrome and related disorders, characterized by dysmorphisms, cardiac defects, skeletal anomalies, cognitive involvement, and a variable predisposition to pediatric cancers. They share dysregulation of the RAS-MAPK pathway and exhibit altered energy metabolism, with reduced adiposity and feeding difficulties. Preliminary studies suggest an unfavorable lipid profile, with low total cholesterol and HDL, varying by sex, age, and genotype. This multicenter study aims to further investigate lipid and glucose metabolism in patients with RASopathies to better define the natural history of the disease and support clinical management.

• To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype [Срок оценки: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.]
• To determine whether altered lipoprotein levels, compared to the general population as reported in the literature, are associated with altered apo-B and apo-A1 levels in the different forms of RASopathy [Срок оценки: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.]