Actively Recruiting
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression
Led by University Hospital, Toulouse · Updated on 2026-03-19
100
Participants Needed
1
Research Sites
260 weeks
Total Duration
On this page
AI-Summary
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 disease's 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.
CONDITIONS
Brief Title
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children aged at least 3 years old or adults 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, implying mastery of the French language and no judicial restriction of rights
- Patients or legal representatives who have given their consent to participate in the study (expression of no objection)
You will not qualify if you...
- Patients subject to a legal protection measure such as guardianship, curatorship, or safeguard of justice
- Pregnant or breastfeeding women
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Ongoing during routine care visits
Participants who undergo routine care are observed during their regular check-up visits. Extra samples of blood and urine will be collected and stored for research purposes with the participant's consent.
Samples collected during regular check-up visits
Trial Site Locations
Total: 1 location
1
Purpan University Hospital
Toulouse, France, 31059
Actively Recruiting
Research Team
T
Thomas EDOUARD, MD, PhD
F
Françoise Auriol, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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