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

Noonan Syndrome Clinical Trial

— Noonan  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05202210
• Other study ID #: RC31/21/0361
• Status: Recruiting
• Start date: January 26, 2022
• Est. completion date: January 26, 2032

Study information

• Verified date: May 2023
• Source: University Hospital, Toulouse
• Contact: Thomas EDOUARD, MD, PhD
• Phone: 5 34 55 85 55
• Email: edouard.t[@]chu-toulouse.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: January 26, 2032
• Est. primary completion date: January 26, 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• Noonan Syndrome
• Syndrome

Intervention

Biological:
• blood and urine sampling
extra sample of blood and urine will be collected

Locations

Country	Name	City	State
France	Purpan University Hospital	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Constitution of a biological collection from patients with Noonan or related syndromes.	extra sample of blood and urine will be collected	inclusion