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

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

RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.

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.

Inclusion Criteria:

• Clinically diagnosed RASopathy confirmed by molecular testing;
• Patients referred to participating centers between 01/01/2001 and 31/12/2022;
• Age at enrollment between 2 and 35 years, inclusive;
• Obtaining informed consent.

Exclusion Criteria:

• None.