Noonan SyndromeNCT07881081
Neuroradiological Features of Noonan Syndrome and Genotype-Phenotype Correlations
An observational study of Noonan Syndrome, run by Istituto Giannina Gaslini at 10 sites in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Noonan Syndrome
- What is being tested?
- Brain MRI and MR angiography (MRA)
- How many people
- 60 participants
- Where
- 10 sitesItaly
- Study dates
- 15 May 2021to 31 Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a genetically confirmed diagnosis of Noonan syndrome.
Who may be able to join
- Genetic confirmation of diagnosis
- Informed consent form signed
Who cannot join
None listed.
Trial locations and contacts
10 sites in 1 country. Contact the study team or a site near you to ask about taking part.
10 sites in 1 country
Italy10 sites, 10 recruiting
- Recruiting
Azienda Ospedaliero-Universitaria Policlinico di Bari
Bari
Maria Felicia Faienza, +39 080 559 6798, mariafelicia.faienza@policlinico.ba.it
- Recruiting
Clinica Pediatrica del Policlinico Sant'Orsola-Malpighi di Bologna
Bologna
Laura Mazzanti, Prof, +39 051 214 1111, laura.mazzanti5@unibo.it
- Recruiting
IRCCS Ospedale Pediatrico Meyer
Florence
Stefano Stagi, +39 055 5662585., stefano.stagi@meyer.it
- Recruiting
A.O.U. Policlinico "G. Martino"
Messina
Malgorzata Wasnievska, +39 090 221 3170, malgorzata.wasniewska@unime.it
- Recruiting
IRCCS Ospedale San Raffaele
Milan
Gabriella Pozzobon, +39 02 2643 2673, pozzobon.gabriella@hsr.it
- Recruiting
Ospedale San Gerardo di Monza
Monza
Cattoni, +39 039 233 3229, alessandro.cattoni@unimib.it
- Recruiting
Policlinico Federico II
Naples
Donatella Capalbo, +39 081 746 4339, donatella.capalbo@unina.it
- Recruiting
Università degli Studi della Campania "Luigi Vanvitelli"
Naples
Anna Grandone, +39 081 566 5426, anna.grandone@unicampania.it
- Recruiting
IRCCS Ospedale pediatrico bambino Gesù
Roma
Marco Cappa, +39 06 68592605, marco.cappa@opbg.net
- Recruiting
Ospedale Regina Margherita
Torino
Luisa De Sanctis, +39 011 248 5457, luisa.desanctis@unito.it
About this study
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.
Read the detailed description
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.
- Conditions
- Noonan Syndrome
- Being tested
- Brain MRI and MR angiography (MRA)
- Keywords
- RAS/MAPK, neuroimaging
- Medical subject headings
- Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Brain MRI and MR angiography (MRA)Other
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 24 months
Secondary outcomes (1)
Identification of genotype-phenotype correlations
Imaging will be analysed in order to identify genotype-phenotype correlations
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2026
- Study start15 May 2021
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Noonan SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07881081
- Sponsor's protocol ID
- MMGPMT01
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 19 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided