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

Recruiting

• Conditions: Noonan Syndrome
• Interventions: Biological: blood and urine sampling

• Registration Number: NCT05202210
• Lead Sponsor: University Hospital, Toulouse

Brief Summary

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

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.

Study Timeline

• Study First Submitted: 2022-01-07
• Study First Submitted QC: 2022-01-07
• Study First Posted: 2022-01-21
• Study Start: 2022-01-26
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-05
• Last Update Posted: 2024-12-11
• Primary Completion: 2027-01-26
• Study Completion: 2032-01-26

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with Noonan syndrome	blood and urine sampling	extra sample of blood and urine will be collected and stored for research utilisation

Primary Outcome Measures

Name	Time	Method
Constitution of a biological collection from patients with Noonan or related syndromes.	inclusion	extra sample of blood and urine will be collected

Trial Locations

Locations (1)

Purpan University Hospital; 🇫🇷 Toulouse, France