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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Noonan Syndrome
• Intervention / Treatment: Biological: blood and urine sampling

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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Thomas Edouard, MD, PhD; Phone Number: 0033 5 34 55 85 55; Email: edouard.t@chu-toulouse.fr
• Study Contact Backup: Name: Françoise Auriol, PhD; Phone Number: 0033 5 67 77 10 95; Email: auriol.f@chu-toulouse.fr

Study Locations

• France
  • Toulouse, France, 31059
    • Recruiting
    • Purpan University Hospital
    • Contact: Françoise Auriol, PhD; Phone Number: 0033 5 61 77 10 95; Email: auriol.f@chu-toulouse.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 99 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with Noonan syndrome

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
patients with Noonan syndrome; extra sample of blood and urine will be collected and stored for research utilisation	Biological: blood and urine sampling; extra sample of blood and urine will be collected

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Investigators: Principal Investigator: Thomas EDOUARD, MD PhD, University Hospital, Toulouse

Study record dates

Study Major Dates

• Study Start (Actual): January 26, 2022
• Primary Completion (Estimated): January 26, 2027
• Study Completion (Estimated): January 26, 2032

Study Registration Dates

• First Submitted: January 7, 2022
• First Submitted That Met QC Criteria: January 7, 2022
• First Posted (Actual): January 21, 2022

Study Record Updates

• Last Update Posted (Actual): May 26, 2023
• Last Update Submitted That Met QC Criteria: May 25, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: Noonan Syndrome; Biological collection
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Disease; Congenital Abnormalities; Musculoskeletal Diseases; Connective Tissue Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Syndrome; Noonan Syndrome
• Other Study ID Numbers: RC31/21/0361

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No