Actively Recruiting
National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2026-03-11
200
Participants Needed
14
Research Sites
8 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
RASopathies, including Noonan syndrome and related disorders, are congenital conditions marked by physical differences, heart defects, bone anomalies, cognitive challenges, and varying risks of pediatric cancers. These conditions involve a shared disruption of the RAS-MAPK pathway and show changes in energy metabolism, such as reduced body fat and feeding problems. This research investigates the lipid and glucose metabolism in individuals with these conditions to improve understanding and patient care. This observational study examines how lipid profiles and glucose metabolism vary by sex, age (pre- and post-puberty), and genetic subtype in patients with RASopathies. The study tracks these metabolic factors at multiple time points: baseline, 1 year, 2 years, 5 years, and 10 years. Researchers also compare altered lipid levels with associated proteins apo-B and apo-A1 in different forms of RASopathy. Participants aged 2 to 35 years with a confirmed molecular diagnosis of a RASopathy are enrolled. Data collection includes metabolic assessments at scheduled visits over up to 10 years. The main outcome measures focus on changes in lipid and glucose metabolism related to demographics and genotype. The study aims to define the natural history of lipid and glucose changes to support better clinical management for patients.
CONDITIONS
Brief Title
National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 10 years
Participants undergo scheduled assessments to monitor lipid and glucose metabolism over time to understand the natural history of RASopathies.
5 visits over 10 years (baseline, 1 year, 2 years, 5 years, and 10 years)
Trial Site Locations
Total: 14 locations
1
Azienda Ospedaliero-Universitaria di Alessandria
Alessandria, Italy
Not Yet Recruiting
2
AOU Policlinico di Bari
Bari, Italy
Not Yet Recruiting
3
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
Actively Recruiting
4
AOU Meyer IRCCS
Florence, Italy
Actively Recruiting
5
IRCCS Istituto Giannina Gaslini
Genova, Italy
Actively Recruiting
6
AOU Policlinico G. Martino
Messina, Italy
Not Yet Recruiting
7
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy
Not Yet Recruiting
8
IRCCS Ospedale San Raffaele
Milan, Italy
Not Yet Recruiting
9
Azienda Ospedaliera Policlinico di Modena
Modena, Italy
Not Yet Recruiting
10
Fondazione IRCCS San Gerardo dei Tintori
Monza, Italy
Not Yet Recruiting
11
AOU Vanvitelli
Naples, Italy
Not Yet Recruiting
12
Azienda Ospedale-Università di Padova
Padova, Italy
Not Yet Recruiting
13
Azienda Ospedaliero-Universitaria di Parma
Parma, Italy
Not Yet Recruiting
14
AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona
Verona, Italy
Not Yet Recruiting
Research Team
F
Federica Tamburrino
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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