Neuroradiology Features in Noonan Syndrome and Gene-Linked Brain Differences

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 study collects existing and new brain MRI and MRA images from individuals with a genetically confirmed Noonan syndrome. It aims to describe neuroradiological features and explore potential genotype-phenotype correlations, using retrospective and prospective data. The project acknowledges the higher reported risk of brain tumors and vascular abnormalities in Noonan syndrome and seeks to systematically characterize these findings. Imaging analyses will be conducted within routine clinical practice and may inform future surveillance strategies. The study is led by Istituto Giannina Gaslini with collaboration from major pediatric centers in Italy.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetic confirmation of diagnosis
* Informed consent form signed

Where it's running

• Azienda Ospedaliero-Universitaria Policlinico di Bari
  Bari, Italy Recruiting
• Clinica Pediatrica del Policlinico Sant'Orsola-Malpighi di Bologna
  Bologna, Italy Recruiting
• IRCCS Ospedale Pediatrico Meyer
  Florence, Italy Recruiting
• A.O.U. Policlinico "G. Martino"
  Messina, Italy Recruiting
• IRCCS Ospedale San Raffaele
  Milan, Italy Recruiting
• Ospedale San Gerardo di Monza
  Monza, Italy Recruiting

Study contacts

• Study coordinator: Giuseppa Patti
• Email: giuseppapatti@gaslini.org
• Phone: +39 01056362369

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.

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

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

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• 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.