National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: RASopathies, Noonan Syndrome. Basic parameters: 2 years — 35 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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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.
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.
Primary outcome measures
- 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.]
Secondary outcome measures (2)
- 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.]
- 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.]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 14 centers
- Azienda Ospedaliero-Universitaria di Alessandria — Alessandria
- AOU Policlinico di Bari — Bari
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna
- AOU Meyer IRCCS — Florence
- IRCCS Istituto Giannina Gaslini — Genova
- AOU Policlinico G. Martino — Messina
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan
- IRCCS Ospedale San Raffaele — Milan
- … and 6 more centers
Identifiers
NCT: NCT07464821 · Noonan2024