An observational study in Noonan Syndrome, sponsored by Istituto Giannina Gaslini. Recruiting at 10 sites in Italy. Per ClinicalTrials.gov, last updated 2026-10-19.
Sponsored by Istituto Giannina Gaslini · Observational
Retrospective and prospective collection of brain and spinal MRI and MR angiography images from patients of all ages with a genetically confirmed diagnosis of Noonan syndrome.
Mutations affecting the RAS signaling pathway are known to be associated with an increased risk of tumor development. In patients with Noonan syndrome (NS), brain tumors appear to occur more frequently than in the general population. The brain tumors most commonly reported in these patients include dysembryoplastic neuroepithelial tumors (DNETs) and low-grade gliomas, while high-grade gliomas have been reported less frequently.
Based on the available literature, which consists mainly of small case series and case reports, as well as our own experience with cerebrovascular abnormalities and DNETs in patients with NS, the RAS/RAS-MAPK signaling pathway may play a role in brain development.
These observations highlight the need for a systematic neuroradiological study in patients with a genetically confirmed diagnosis of NS.
Brain MRI is already part of routine clinical practice in patients with NS, particularly before the initiation of growth hormone (GH) therapy, which, in accordance with the relevant Italian Medicines Agency (AIFA) prescribing criteria, may be indicated in patients with pathological short stature and in those with GH deficiency.
A detailed analysis of brain MRI and MR angiography (MRA) images in patients with a genetically confirmed diagnosis of NS will help expand current knowledge of the neurological manifestations of the condition and identify specific genotype-phenotype correlations.
40 studies on the registry are indexed under Noonan Syndrome; 19 are open to participants now.
This study's planned enrollment of 60 is below the median of 221 across 15 observational studies indexed under Noonan Syndrome.
Browse Noonan Syndrome studies →Istituto Giannina Gaslini is the lead sponsor of 50 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with a genetically confirmed diagnosis of Noonan syndrome.
Inclusion Criteria:
The study will not involve any dedicated visits. Informed consent will be obtained from each patient, and neuroimaging examinations will be performed as part of routine clinical practice. Any subsequent assessments will be considered solely on the basis of the individual patient's clinical needs, as determined by the treating physician or specialist. Along with the MRI images, a case report form (CRF) will be completed, including the patient's demographic data, detailed genetic findings, and clinical and neuroradiological phenotype. The neuroradiological findings will then be correlated with each patient's genotype and clinical phenotype.
Description of Neuroradiological Features of Noonan Syndrome
Execution, collection and analysis of brain and spinal MRI and MR angiography images. The retrospective phase will be followed by a prospective phase, consisting of brain and spinal MRI and MRA examinations in all patients with a genetically confirmed diagnosis of Noonan syndrome, with the collection of images acquired at the participating centres.
Time frame: 24 months
Identification of genotype-phenotype correlations
Imaging will be analysed in order to identify genotype-phenotype correlations
Time frame: 24 months
Plan to share: Undecided
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Istituto Giannina Gaslini