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Noonan syndrome study aims to uncover hidden heart risks

NCT ID NCT07464821

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 200 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2025

Expected to finish

Apr 2027

An estimate. End dates often move.

Lead sponsor

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

2 to 35 years

Sex

Anyone

Healthy volunteers

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

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.

  1. The places running it

    14 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

  • AOU Meyer IRCCS

    RECRUITING

    Florence, Italy

  • AOU Policlinico G. Martino

    NOT_YET_RECRUITING

    Messina, Italy

  • AOU Policlinico di Bari

    NOT_YET_RECRUITING

    Bari, Italy

  • AOU Vanvitelli

    NOT_YET_RECRUITING

    Naples, Italy

  • AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona

    NOT_YET_RECRUITING

    Verona, Italy

  • Azienda Ospedale-Università di Padova

    NOT_YET_RECRUITING

    Padova, Italy

  • Azienda Ospedaliera Policlinico di Modena

    NOT_YET_RECRUITING

    Modena, Italy

  • Azienda Ospedaliero-Universitaria di Alessandria

    NOT_YET_RECRUITING

    Alessandria, Italy

  • Azienda Ospedaliero-Universitaria di Parma

    NOT_YET_RECRUITING

    Parma, Italy

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    NOT_YET_RECRUITING

    Milan, Italy

  • Fondazione IRCCS San Gerardo dei Tintori

    NOT_YET_RECRUITING

    Monza, Italy

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Italy

  • IRCCS Istituto Giannina Gaslini

    RECRUITING

    Genova, Italy

  • IRCCS Ospedale San Raffaele

    NOT_YET_RECRUITING

    Milan, Italy

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