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

IRCCS Azienda Ospedaliero-Universitaria di Bologna200 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

RASopathies Noonan Syndrome

Eligibility

Sex: ALLMin age: 2 YearsMax age: 35 Years

Medical Language ↔ Plain English

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.

Locations (14)

Azienda Ospedaliero-Universitaria di Alessandria

Alessandria, Italy

NOT_YET_RECRUITING

AOU Policlinico di Bari

Bari, Italy

Outcomes

Primary Outcomes

To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype

total, HDL, LDL cholesterol and triglycerides (mg/dL)

Time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.

Secondary Outcomes

To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype

Insulin and blood glucose (mg/dL)

Time frame: 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

ApoA1-B (mg/dl)

Time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.

Central Contacts

Federica Tamburrino

CONTACT

00390512143723 federica.tamburrino@aosp.bo.it

Data from ClinicalTrials.gov

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