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

March 9, 2026 updated by: Federica Tamburrino, IRCCS Azienda Ospedaliero-Universitaria di Bologna
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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 (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Alessandria, Italy
        • Not yet recruiting
        • Azienda Ospedaliero-Universitaria di Alessandria
        • Contact:
      • Bari, Italy
      • Bologna, Italy
        • Recruiting
        • IRCCS Azienda Ospedaliero-Universitaria di Bologna
        • Contact:
      • Florence, Italy
      • Genova, Italy
      • Messina, Italy
      • Milan, Italy
      • Milan, Italy
        • Not yet recruiting
        • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
        • Contact:
      • Modena, Italy
        • Not yet recruiting
        • Azienda Ospedaliera Policlinico di Modena
        • Contact:
      • Monza, Italy
      • Napoli, Italy
      • Padua, Italy
        • Not yet recruiting
        • Azienda Ospedale-Università di Padova
        • Contact:
      • Parma, Italy
      • Verona, Italy
        • Not yet recruiting
        • AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
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
Time Frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
ApoA1-B (mg/dl)
V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 26, 2025

Primary Completion (Estimated)

February 26, 2027

Study Completion (Estimated)

April 26, 2027

Study Registration Dates

First Submitted

February 25, 2026

First Submitted That Met QC Criteria

March 9, 2026

First Posted (Actual)

March 11, 2026

Study Record Updates

Last Update Posted (Actual)

March 11, 2026

Last Update Submitted That Met QC Criteria

March 9, 2026

Last Verified

November 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Noonan2024

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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