Link Between Abnormal Bleeding and Coagulation Disorders in Noonan Syndromes

NCT07259135 | Not Yet Recruiting

• 1 other identifier: CHUBX 2024/96
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

Noonan syndrome is a relatively rare genetic disorder, affecting around 1 in every 1,000 to 2,500 children born. Patients often have a tendency to bleed more easily, particularly from the skin or mucocutaneous tissue (such as mouth or nose). Around half of all the patients are affected by bleedings. The causes of bleeding are variable : some are linked to platelet disorders, others to more complex coagulation problems. However, it is difficult to predict exactly which patients are at risk of severe bleeding, for example during surgery. This is why there are as yet no clear recommendations for preventing this risk before medical intervention. However, it is recommended that patients with Noonan syndrome consult a specialist to assess this risk. Unfortunately, the tests carried out are often unreliable in predicting this significant risk of bleeding. In this study, data from a large group of patients with Noonan syndrome, followed-up in different centers in France, will be studied. During a medical meeting as part of their regular follow-up, a medical doctor assessed their tendency to bleed using a standardized questionnaire (standardized ISTH-BAT score). These results will be compared with the biological tests also performed during their medical follow-up. The aim is to better understand whether these tests are useful in predicting the risk of bleeding. Ultimately, this could help practicians to better anticipate surgical or medical interventions in these patients, and limit bleeding-related risk.

Conditions

Noonan Syndrome

Keywords

Noonan; Retrospective; Prediction; Hemorrhagic; Hemostasis; Bleeding; Surgery

Outcome Measures

Primary Outcomes (3)

• ISTH-BAT haemorrhagic score

  The ISTH-BAT standardized questionnaire uses 14 items to assess the severity of cutaneous-mucosal, cerebral, articular and per- or post-operative haemorrhagic symptoms

  At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)

• Willebrand factor

  The Willebrand factor will be obtained from biological tests (in percentage of controls mean value)

  At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)

• Platelet function

  Platelet function will be obtained from biological tests (in percentage of controls mean value)

  At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)

Study Arms (1)

Noonan Syndrome (SN)

Cohort of SN patients meeting study eligibility criteria

Other: Reuse of routine clinical and biological data

Interventions

Reuse of routine clinical and biological data OTHER

Reuse of routine clinical and biological data

Noonan Syndrome (SN)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient with noonan syndrome

You may qualify if:

• All patients with SN, regardless of age
• Patient/parental guardians informed of the study
• Patient/legal representative not opposed to the use of their/the child's data
• Person affiliated or benefiting from a social security scheme

You may not qualify if:

• \- Adults protected by law (guardianship, curatorship or safeguard of justice)

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (1)

CHU de Bordeaux, Service Hématologie Biologique

Bordeaux, France

Location

MeSH Terms

Conditions

Noonan Syndrome; Hemorrhage

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; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Mathieu FIORE

CONTACT

05 57 65 64 78; mathieu.fiore@chu-bordeaux.fr

Valérie GOIN MONSINJON

CONTACT

valerie.goin@chu-bordeaux.fr

Study Design

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

Study Record Dates

• First Submitted: July 22, 2025
• First Posted: December 2, 2025
• Study Start: January 1, 2026
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027
• Last Updated: December 2, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)