Lipid and glucose patterns in Noonan syndrome and related RASopathies by age, sex, and genotype

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Italy Recruiting
• AOU Meyer IRCCS
  Florence, Italy Recruiting
• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting
• Azienda Ospedaliero-Universitaria di Alessandria
  Alessandria, Italy Not yet recruiting
• AOU Policlinico di Bari
  Bari, Italy Not yet recruiting
• AOU Policlinico G. Martino
  Messina, Italy Not yet recruiting

Study contacts

• Study coordinator: Federica Tamburrino
• Email: federica.tamburrino@aosp.bo.it
• Phone: 00390512143723

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• National Registry for Noonan Syndrome (Italy)

  This registry will collect genetic and clinical information from people with Noonan syndrome in Italy to understand how the condition changes over time and how treatments like growth hormone may work.

  Recruiting at 35 sites Istituto Giannina Gaslini · Ancona and 34 other locations · NCT07881159

• Neuroradiology Features in Noonan Syndrome and Gene-Linked Brain Differences

  This study tests brain MRI and MR angiography in people with Noonan syndrome to see how brain imaging patterns relate to their specific genetic mutations.

  Recruiting at 10 sites Istituto Giannina Gaslini · Bari and 9 other locations · NCT07881081

• Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

  This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

  Recruiting Chinese Academy of Medical Sciences, Fuwai Hospital · Beijing · NCT07336394

• Using MEK inhibitors to treat hypertrophic cardiomyopathy in children with RASopathies

  This study is testing if a new medication called trametinib can help children with RASopathies and hypertrophic cardiomyopathy feel better compared to standard treatment alone.

  Recruiting Phase 2 Medical University of Warsaw · Warsaw · NCT06555237

• Therapy to help caregivers of children with genetic disorders manage stress

  This study tests whether a remote therapy program can help caregivers of children with genetic disorders manage their stress better.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT05361811

• Collection of biological samples to study Noonan syndrome

  This study is collecting blood and urine samples from people with Noonan syndrome to help researchers learn more about the condition and how it affects patients.

  Recruiting University Hospital, Toulouse · Toulouse · NCT05202210

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.