RecruitingNCT07464821

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


Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Enrollment

200 participants

Start Date

Feb 26, 2025

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 2 YearsMax Age: 35 Years

Inclusion Criteria4

  • 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 Criteria1

  • None.

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Locations(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

Padova, Italy

Azienda Ospedaliero-Universitaria di Parma

Parma, Italy

AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona

Verona, Italy

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NCT07464821


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