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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07464821

Enrollment

200

Registered

2026-03-11

Start date

2025-02-26

Completion date

2027-04-26

Last updated

2026-03-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Noonan Syndrome, RASopathies

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.

Detailed description

RASopathies are a group of congenital malformative syndromes, including Noonan syndrome and related disorders, characterized by dysmorphisms, cardiac defects, skeletal anomalies, cognitive involvement, and a variable predisposition to pediatric cancers. They share dysregulation of the RAS-MAPK pathway and exhibit altered energy metabolism, with reduced adiposity and feeding difficulties. Preliminary studies suggest an unfavorable lipid profile, with low total cholesterol and HDL, varying by sex, age, and genotype. This multicenter study aims to further investigate lipid and glucose metabolism in patients with RASopathies to better define the natural history of the disease and support clinical management.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to 35 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
To assess whether the lipid profile of 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.	total, HDL, LDL cholesterol and triglycerides (mg/dL)

Secondary

Measure	Time frame	Description
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.	Insulin and blood glucose (mg/dL)
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.	ApoA1-B (mg/dl)

Countries

Italy

Contacts

CONTACTFederica Tamburrino

federica.tamburrino@aosp.bo.it00390512143723

Outcome results