National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
1 other identifier
observational
200
1 country
14
Brief Summary
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2025
Typical duration for all trials
14 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 26, 2025
CompletedFirst Submitted
Initial submission to the registry
February 25, 2026
CompletedFirst Posted
Study publicly available on registry
March 11, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 26, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
April 26, 2027
March 11, 2026
November 1, 2025
2 years
February 25, 2026
March 9, 2026
Conditions
Outcome Measures
Primary Outcomes (1)
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
total, HDL, LDL cholesterol and triglycerides (mg/dL)
V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
Secondary Outcomes (2)
To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
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
V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
Eligibility Criteria
Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.
You may qualify if:
- 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 may not qualify if:
- None.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (14)
Azienda Ospedaliero-Universitaria di Alessandria
Alessandria, Italy
AOU Policlinico di Bari
Bari, Italy
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
AOU Meyer IRCCS
Florence, Italy
IRCCS Istituto Giannina Gaslini
Genova, Italy
AOU Policlinico G. Martino
Messina, Italy
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy
IRCCS Ospedale San Raffaele
Milan, Italy
Azienda Ospedaliera Policlinico di Modena
Modena, Italy
Fondazione IRCCS San Gerardo dei Tintori
Monza, Italy
AOU Vanvitelli
Naples, Italy
Azienda Ospedale-Università di Padova
Padua, Italy
Azienda Ospedaliero-Universitaria di Parma
Parma, Italy
AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona
Verona, Italy
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD
Study Record Dates
First Submitted
February 25, 2026
First Posted
March 11, 2026
Study Start
February 26, 2025
Primary Completion (Estimated)
February 26, 2027
Study Completion (Estimated)
April 26, 2027
Last Updated
March 11, 2026
Record last verified: 2025-11