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

RECRUITINGSponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna
Actively Recruiting
SponsorIRCCS Azienda Ospedaliero-Universitaria di Bologna
Started2025-02-26
Est. completion2027-02-26
Eligibility
Age2 Years – 35 Years
Healthy vol.Accepted

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.

Eligibility

Age: 2 Years – 35 YearsHealthy volunteers accepted
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.

Conditions3

Heart DiseaseNoonan SyndromeRASopathies

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