Collection of biological samples to study Noonan syndrome
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression
This study is collecting blood and urine samples from people with Noonan syndrome to help researchers learn more about the condition and how it affects patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | University Hospital, Toulouse Academic / other |
| Locations | 1 site (Toulouse) |
| Trial ID | NCT05202210 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are children aged at least 3 years or adults diagnosed with Noonan syndrome who can provide informed consent.
Not a fit: Patients who are subject to legal protection measures or are pregnant or breastfeeding may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Noonan syndrome and lead to improved management and treatment options for patients.
How similar studies have performed: While this approach is focused on biological sample collection, similar studies have shown success in advancing understanding of genetic disorders through biological research.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Toulouse
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.