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.

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Key information

Conditions

RASopathies Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Craniofacial Abnormalities Heart Defects, Congenital Heart Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Noonan Syndrome Skin and Connective Tissue Diseases

Age range

2 year–35 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Azienda Ospedaliero-Universitaria di Alessandria, Alessandria, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

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

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

Secondary outcomes

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

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

Insulin and blood glucose (mg/dL)
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

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

ApoA1-B (mg/dl)

Study contacts

Contact information is provided by the study sponsor or research team.

Federica Tamburrino

CONTACT

[email protected]

00390512143723

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Important dates

Study start: 2025
Primary completion: 2027
Study completion: 2027
First posted: Mar 11, 2026
Registry last updated: Mar 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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