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

Study Overview
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Brief Summary
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The present study will establish a collection of biological samples from Noonan patients to be used for research purposes only, with due respect for confidentiality.

Detailed Description
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Noonan syndrome is a rare autosomal dominant genetic disorder characterized by a combination of typical facial features, heart defects, short stature, skeletal abnormalities, mild developmental delay and a predisposition to myeloproliferative disorders. This syndrome is caused by germline mutations in genes encoding components or regulators of the Rat Sarcoma (RAS) / extracellular signal-regulated kinase (ERK) signaling pathway, which is essential for cell cycle differentiation, growth, and senescence. Patients with Noonan syndrome or related diseases are followed at the children's hospital, Toulouse University Hospital. During regular check-up visits, an extra sample of blood and urine will be collected and stored for research utilisation with the patient's consent. The ultimate objective of this collection is to provide available biological resources to facilitate the development of subsequent studies aimed at better characterizing the multisystemic disorders in Noonan syndrome, to understand the pathophysiology of the disease, and to identify biological factors that predict the severity and progression of the disease. The possibility of having systematically collected biological resources will make it possible to answer certain questions more quickly depending on the progress of research.

Official Title
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Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression

Conditions
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Noonan Syndrome

Intervention / Treatment
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* Biological: blood and urine sampling


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 99 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| patients with Noonan syndrome<br>extra sample of blood and urine will be collected and stored for research utilisation | Biological: blood and urine sampling<br>* extra sample of blood and urine will be collected<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Constitution of a biological collection from patients with Noonan or related syndromes. | extra sample of blood and urine will be collected | inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Biological collection, Noonan Syndrome