Noonan syndrome study aims to uncover hidden heart risks
NCT ID NCT07464821
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at higher risk for heart problems.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help doctors better monitor and manage heart and metabolic risks in people with Noonan syndrome.
- What could go wrong
- This is an observational study, not a treatment trial. It will not test any new drug or therapy, so it cannot directly improve health.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Feb 2025
- Expected to finish
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Apr 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.
- Ages
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2 to 35 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Clinically diagnosed RASopathy confirmed by molecular testing; * Patients referred to participating centers between 01/01/2001 and 31/12/2022; * Age at enrollment between 2 and 35 years, inclusive; * Obtaining informed consent. Exclusion Criteria: * None.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
14 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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AOU Meyer IRCCS
RECRUITINGFlorence, Italy
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AOU Policlinico G. Martino
NOT_YET_RECRUITINGMessina, Italy
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AOU Policlinico di Bari
NOT_YET_RECRUITINGBari, Italy
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AOU Vanvitelli
NOT_YET_RECRUITINGNaples, Italy
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AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona
NOT_YET_RECRUITINGVerona, Italy
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Azienda Ospedale-Università di Padova
NOT_YET_RECRUITINGPadova, Italy
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Azienda Ospedaliera Policlinico di Modena
NOT_YET_RECRUITINGModena, Italy
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Azienda Ospedaliero-Universitaria di Alessandria
NOT_YET_RECRUITINGAlessandria, Italy
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Azienda Ospedaliero-Universitaria di Parma
NOT_YET_RECRUITINGParma, Italy
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Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
NOT_YET_RECRUITINGMilan, Italy
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Fondazione IRCCS San Gerardo dei Tintori
NOT_YET_RECRUITINGMonza, Italy
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITINGBologna, Italy
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IRCCS Istituto Giannina Gaslini
RECRUITINGGenova, Italy
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IRCCS Ospedale San Raffaele
NOT_YET_RECRUITINGMilan, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Noonan syndrome research: scientists launch sample collection to unlock disease secrets
- New drug aims to boost growth in kids with noonan syndrome
- New program aims to ease burden on families of kids with rare diseases
- New study tests online therapy to ease stress for parents of kids with RASopathies
- New scan techniques aim to solve rare heart disease mysteries
- New study tackles diagnostic maze for rare developmental disorders