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

NCT05202210 | Recruiting

• 1 other identifier: RC31/21/0361
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Noonan Syndrome

Keywords

Biological collection; Noonan Syndrome

Outcome Measures

Primary Outcomes (1)

• Constitution of a biological collection from patients with Noonan or related syndromes.

  extra sample of blood and urine will be collected

  inclusion

Study Arms (1)

patients with Noonan syndrome

extra sample of blood and urine will be collected and stored for research utilisation

Biological: blood and urine sampling

Interventions

blood and urine sampling BIOLOGICAL

extra sample of blood and urine will be collected

patients with Noonan syndrome

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Noonan syndrome

You may qualify if:

• 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)

You may not qualify if:

• Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
• Pregnant or breastfeeding women

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

Purpan University Hospital

Toulouse, 31059, France

RECRUITING

MeSH Terms

Conditions

Noonan Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Thomas EDOUARD, MD PhD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas EDOUARD, MD, PhD

CONTACT

5 34 55 85 55; edouard.t@chu-toulouse.fr

Françoise Auriol, PhD

CONTACT

5 67 77 10 95; auriol.f@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 7, 2022
• First Posted: January 21, 2022
• Study Start: January 26, 2022
• Primary Completion (Estimated): January 26, 2027
• Study Completion (Estimated): January 26, 2032
• Last Updated: March 19, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)