An observational study in Noonan Syndrome, sponsored by Istituto Giannina Gaslini. Recruiting at 35 sites in Italy. Per ClinicalTrials.gov, last updated 2026-10-19.
Sponsored by Istituto Giannina Gaslini · Observational
This study will create a national registry (a secure online database) of people with Noonan syndrome in Italy. Noonan syndrome is a genetic condition. It can affect growth, the heart, and other parts of the body. It is rare, so doctors have limited information about how it develops over time.
WHY IS THIS STUDY BEING DONE?
The researchers want to learn more about how Noonan syndrome affects people. They will look at:
Signs and symptoms of the condition How the specific gene change relates to a person's signs and symptoms How children and adults grow over time Health problems that may appear in the short or long term Growth hormone (GH) treatment: how well it works and how safe it is
The researchers will use this information to write advice for long-term care and follow-up. The registry may also make it easier to start future clinical trials for people with Noonan syndrome.
WHO CAN TAKE PART? People of any age and sex People whose Noonan syndrome has been confirmed by a genetic test People who agree to take part. Adults sign a consent form themselves. For children, and for people who cannot consent, a parent or legal representative signs.
People who do not sign the consent form cannot be included.
WHAT WILL HAPPEN? Doctors at the participating centers will enter health information into a secure online platform. The information includes personal details such as age and sex, health history, genetic test results, and treatments.
The doctors will first enter information for people they already follow. Later they will add new diagnoses and update each person's information as time goes on.
Doctors will also enter the results of the first heart check. They will add the results of follow-up heart checks, about every 2 years, when available.
The database is stored at the Gaslini Institute in Genoa, Italy. The study leaders are responsible for it.
About 250 people will join at first. About 60 more will join each year, for about 400 people over 5 years.
WHAT ELSE SHOULD I KNOW? Taking part is voluntary. This study does not test a new medicine or treatment. Doctors record the care you already receive.
People in the registry will get news about new diagnosis and care options. They will also be invited to join clinical trials.
The study will last 5 years. It may be extended.
40 studies on the registry are indexed under Noonan Syndrome; 19 are open to participants now.
This study's planned enrollment of 400 is above 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.
People of any age and sex with genetically confirmed Noonan syndrome, followed at participating centers in Italy. The registry first enrolls people already followed at these centers (about 250), then adds new diagnoses over time (about 60 per year).
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
- Informed consent not signed
Establish a national disease registry
Time frame: 5 years
Describe the clinical characteristics of a large population of individuals with Noonan syndrome and the possible genotype-phenotype correlation
Time frame: 5 years
Provide an online platform for healthcare professionals to report demographic and clinical information on patients with Noonan syndrome
Time frame: 5 years
Evaluate growth curves and any short- and/or long-term complications in individuals with Noonan syndrome, with or without growth hormone (GH) treatment
Time frame: 5 years
Draft specific recommendations for the long-term follow-up of these patients
Time frame: 5 years
Facilitate future clinical trials in individuals with this condition
Time frame: 5 years
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 ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Istituto Giannina Gaslini