Collection of biological samples to study Noonan syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to establish a biological collection of samples from patients with Noonan syndrome to facilitate research into the condition's pathophysiology. Patients will provide blood and urine samples during regular check-ups at the Toulouse University Hospital, with their consent. The collected samples will be used to better understand the multisystemic disorders associated with Noonan syndrome and to identify biological factors that may predict disease severity and progression.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Children aged at least 3 years old or adult with Noonan syndrome
* Patients affiliated to or beneficiaries of a social security scheme
* Patients able to receive information on the progress of the study and understand the information form to participate in the study. That implies to master the French language and not to be subject to a restriction of rights by the judicial authorities
* Patients or legal representative who have given their consent to participate in the study (expression of no objection)

Exclusion Criteria:

* Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
* Pregnant or breastfeeding women

Where it's running

• Purpan University Hospital
  Toulouse, France Recruiting

Study contacts

• Principal investigator: Thomas EDOUARD, MD PhD — University Hospital, Toulouse
• Study coordinator: Thomas EDOUARD, MD, PhD
• Email: edouard.t@chu-toulouse.fr
• Phone: 5 34 55 85 55

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• National Registry for Noonan Syndrome (Italy)

  This registry will collect genetic and clinical information from people with Noonan syndrome in Italy to understand how the condition changes over time and how treatments like growth hormone may work.

  Recruiting at 35 sites Istituto Giannina Gaslini · Ancona and 34 other locations · NCT07881159

• Neuroradiology Features in Noonan Syndrome and Gene-Linked Brain Differences

  This study tests brain MRI and MR angiography in people with Noonan syndrome to see how brain imaging patterns relate to their specific genetic mutations.

  Recruiting at 10 sites Istituto Giannina Gaslini · Bari and 9 other locations · NCT07881081

• Lipid and glucose patterns in Noonan syndrome and related RASopathies by age, sex, and genotype

  This project will see how lipid and glucose levels differ by age, sex, and genetic type in people with Noonan syndrome and related RASopathies.

  Recruiting at 3 sites IRCCS Azienda Ospedaliero-Universitaria di Bologna · Alessandria and 13 other locations · NCT07464821

• Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

  This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

  Recruiting Chinese Academy of Medical Sciences, Fuwai Hospital · Beijing · NCT07336394

• Using MEK inhibitors to treat hypertrophic cardiomyopathy in children with RASopathies

  This study is testing if a new medication called trametinib can help children with RASopathies and hypertrophic cardiomyopathy feel better compared to standard treatment alone.

  Recruiting Phase 2 Medical University of Warsaw · Warsaw · NCT06555237

• Therapy to help caregivers of children with genetic disorders manage stress

  This study tests whether a remote therapy program can help caregivers of children with genetic disorders manage their stress better.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT05361811

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.