Biological Sample Collection to Study Noonan Syndrome and Understand Disease Progression

What this Trial Is About

This research focuses on Noonan syndrome, a rare genetic disorder affecting multiple body systems including the face, heart, growth, skeleton, and development. The study aims to create a collection of biological samples to better understand the diseases mechanisms and identify factors that predict how the condition progresses over time. Patients with Noonan syndrome or related conditions are followed at Toulouse University Hospital as part of this observational study. During regular medical check-ups, patients will provide extra samples of blood and urine, which will be collected and securely stored for research purposes. These samples will help researchers answer important questions about the disease and support future studies. Participation involves consenting to the collection and use of these biological samples. Participants will be involved during their routine visits, where additional blood and urine samples will be taken. The researchers will maintain confidentiality and use these samples to build a biological collection. The main outcome measure is the establishment of this collection from patients with Noonan syndrome or related disorders. The study runs from January 2022 through January 2032, with no intervention beyond sample collection.

Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome