Lipid and glucose patterns in Noonan syndrome and related RASopathies by age, sex, and genotype
National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
This project will see how lipid and glucose levels differ by age, sex, and genetic type in people with Noonan syndrome and related RASopathies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 2 Years to 35 Years |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 14 sites (Alessandria and 13 other locations) |
| Trial ID | NCT07464821 on ClinicalTrials.gov |
What this trial studies
This is a multicenter observational analysis of patients with molecularly confirmed RASopathies referred to participating Italian centers from 2001 to 2022, aged 2–35 years. Researchers will compile clinical and laboratory data on lipid and glucose metabolism and analyze trends by age, sex, and genotype. The goal is to define the natural history of lipid and glucose measures in these conditions and identify patterns that could inform clinical monitoring. Data come from several tertiary referral centers in Italy, allowing comparison across sites and patient subgroups.
Who should consider this trial
Good fit: People aged 2–35 with a molecular confirmation of a RASopathy who were referred to one of the participating Italian centers between 2001 and 2022 and who provided informed consent.
Not a fit: Individuals without genetic confirmation of a RASopathy, those outside the 2–35 age range, or people not seen at the participating centers are unlikely to receive direct benefit from this analysis.
Why it matters
Potential benefit: If successful, the findings could help clinicians decide when to monitor and manage cholesterol and glucose in people with RASopathies, potentially reducing long-term cardiovascular and metabolic risks.
How similar studies have performed: Small prior studies have reported low total cholesterol and HDL in RASopathies, but comprehensive multicenter analyses by age, sex, and genotype remain limited.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Alessandria and 13 other locations
- Azienda Ospedaliero-Universitaria di Alessandria — Alessandria, Italy (Not_yet_recruiting)
- AOU Policlinico di Bari — Bari, Italy (Not_yet_recruiting)
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy (Recruiting)
- AOU Meyer IRCCS — Florence, Italy (Recruiting)
- IRCCS Istituto Giannina Gaslini — Genova, Italy (Recruiting)
- AOU Policlinico G. Martino — Messina, Italy (Not_yet_recruiting)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan, Italy (Not_yet_recruiting)
- IRCCS Ospedale San Raffaele — Milan, Italy (Not_yet_recruiting)
- Azienda Ospedaliera Policlinico di Modena — Modena, Italy (Not_yet_recruiting)
- Fondazione IRCCS San Gerardo dei Tintori — Monza, Italy (Not_yet_recruiting)
- AOU Vanvitelli — Naples, Italy (Not_yet_recruiting)
- Azienda Ospedale-Università di Padova — Padova, Italy (Not_yet_recruiting)
- Azienda Ospedaliero-Universitaria di Parma — Parma, Italy (Not_yet_recruiting)
- AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona — Verona, Italy (Not_yet_recruiting)
Study contacts
- Study coordinator: Federica Tamburrino
- Email: federica.tamburrino@aosp.bo.it
- Phone: 00390512143723
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.