National Registry for Noonan Syndrome (Italy)

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 observational registry will store a secure online database of individuals with Noonan syndrome across Italy. It will collect genetic confirmation, signs and symptoms, growth patterns, and short- and long-term health outcomes. The goal is to learn how Noonan syndrome progresses, how specific gene changes relate to symptoms, and to evaluate growth hormone treatment safety and efficacy. Findings will inform long-term care recommendations and may support future clinical trials. Participation is open to people of any age with genetically confirmed Noonan syndrome and requires informed consent.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetically confirmed diagnosis of Noonan syndrome
* Any age and sex
* Written informed consent to participate in the study, signed by the participant or their legally authorized representative

Exclusion Criteria:

\- Informed consent not signed

Where it's running

• Azienda Ospedaliera Universitaria delle Marche
  Ancona, Italy Recruiting
• Ospedale Giovanni XXIII
  Bari, Italy Recruiting
• Papa Giovanni XXIII
  Bergamo, Italy Recruiting
• S. Orsola Malpighi
  Bologna, Italy Recruiting
• Ospedale Centrale di Bolzano
  Bolzano, Italy Recruiting
• Spedali Civili
  Brescia, Italy Recruiting

Study contacts

• Study coordinator: Mohamad Maghnie, MD
• Email: mohamadmaghnie@gaslini.org
• Phone: +39 010 5636 2574

Similar studies

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

• 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

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

  This project will see how lipid and glucose levels differ by age, sex, and genetic type in people with Noonan syndrome and related RASopathies.

  Recruiting at 3 sites IRCCS Azienda Ospedaliero-Universitaria di Bologna · Alessandria and 13 other locations · NCT07464821

• 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.