Noonan SyndromePlatNoonNCT07259135
Link Between Abnormal Bleeding and Coagulation Disorders in Noonan Syndromes
An observational study of Noonan Syndrome, run by University Hospital, Bordeaux at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Noonan Syndrome
- What is being tested?
- Reuse of routine clinical and biological data
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2026to Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with noonan syndrome
Who may be able to join
- 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
Who cannot join
- Adults protected by law (guardianship, curatorship or safeguard of justice)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Valérie GOIN MONSINJON contact
France1 site
CHU de Bordeaux, Service Hématologie Biologique
Bordeaux
Mathieu FIORE, mathieu.fiore@chu-bordeaux.fr
Valérie GOIN MONSINJON, valerie.goin@chu-bordeaux.fr
About this study
Official title: Hemorrhagic Risk and Hemostasis Disorders in Noonan Syndrome and Related Conditions
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.
Read the detailed description
Noonan syndrome (NS) is an autosomal dominant genetic disorder, with an estimated prevalence of 1 in 1,000 to 2,500 births/year. Patients with NS have a cutaneous-mucosal hemorrhagic diathesis, with a prevalence estimated at 46% in a large meta-analysis. The most frequently reported abnormalities are those of primary hemostasis (thrombocytopenia, thrombopathy and Willebrand's disease), as well as those of coagulation, but the correlation between symptomatology and hemostatic disorders is unclear. As a result, there are no specific recommendations in terms of intraoperative hemorrhagic risk prevention, due to a lack of knowledge of the real hemorrhagic risk in these patients, who are particularly exposed to invasive procedures. The PNDS recommends that patients be referred to a haemostasis specialist for assessment of bleeding risk, which entails the performance of investigations that are often not very predictive of bleeding risk. Interpretation of these results with regard to bleeding risk therefore remains unsolved. It is against this backdrop that the aim of this study is to retrospectively collect the bleeding diathesis of a national cohort of patients with SN, using a standardized ISTH-BAT score, performed in the context of a specialized hemostasis consultation by a physician from one of the centers involved in this study. The hemorrhagic diathesis will be compared with the results of the hemostasis exploration performed as part of their follow-up (routine care). This study will make it possible to assess the value of a hemostasis study in predicting the risk of bleeding in these patients.
- Conditions
- Noonan Syndrome
- Being tested
- Reuse of routine clinical and biological data
- Keywords
- Noonan, Retrospective, Prediction, Hemorrhagic, Hemostasis, Bleeding, Surgery
- Medical subject headings
- Noonan Syndrome, Hemorrhage
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Reuse of routine clinical and biological dataOther
Reuse of routine clinical and biological data
| Study group | Role | What they receive |
|---|---|---|
| Noonan Syndrome (SN) | Cohort of SN patients meeting study eligibility criteria Receives: Other: Reuse of routine clinical and biological data |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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)
Measured: 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)
Measured: At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2025
- Study startJan 2026 (estimated)
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Noonan SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07259135
- Sponsor's protocol ID
- CHUBX 2024/96
- Acronym
- PlatNoon
- Status last verified
- Nov 2025
- First submitted
- 22 Jul 2025
- Last updated
- 2 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hemorrhagic Risk and Hemostasis Disorders in Noonan Syndrome and Related Conditions
- ClinicalTrials.gov ID
- NCT07259135
- Acronym / sponsor ID
- PlatNoon / CHUBX 2024/96
- Conditions
- Noonan Syndrome
- Keywords
- Noonan, Retrospective, Prediction, Hemorrhagic, Hemostasis, Bleeding, Surgery
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- Jan 2026 (estimated)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 2 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Noonan syndrome (NS) is an autosomal dominant genetic disorder, with an estimated prevalence of 1 in 1,000 to 2,500 births/year. Patients with NS have a cutaneous-mucosal hemorrhagic diathesis, with a prevalence estimated at 46% in a large meta-analysis. The most frequently reported abnormalities are those of primary hemostasis (thrombocytopenia, thrombopathy and Willebrand's disease), as well as those of coagulation, but the correlation between symptomatology and hemostatic disorders is unclear. As a result, there are no specific recommendations in terms of intraoperative hemorrhagic risk prevention, due to a lack of knowledge of the real hemorrhagic risk in these patients, who are particularly exposed to invasive procedures. The PNDS recommends that patients be referred to a haemostasis specialist for assessment of bleeding risk, which entails the performance of investigations that are often not very predictive of bleeding risk. Interpretation of these results with regard to bleeding risk therefore remains unsolved. It is against this backdrop that the aim of this study is to retrospectively collect the bleeding diathesis of a national cohort of patients with SN, using a standardized ISTH-BAT score, performed in the context of a specialized hemostasis consultation by a physician from one of the centers involved in this study. The hemorrhagic diathesis will be compared with the results of the hemostasis exploration performed as part of their follow-up (routine care). This study will make it possible to assess the value of a hemostasis study in predicting the risk of bleeding in these patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Noonan Syndrome (SN) | – | Other: Reuse of routine clinical and biological dataCohort of SN patients meeting study eligibility criteria |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with noonan syndrome
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Adults protected by law (guardianship, curatorship or safeguard of justice)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Reuse of routine clinical and biological dataReuse of routine clinical and biological data | Other | Noonan Syndrome (SN) |
Primary outcome
ISTH-BAT haemorrhagic score
Time frame: At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)
The ISTH-BAT standardized questionnaire uses 14 items to assess the severity of cutaneous-mucosal, cerebral, articular and per- or post-operative haemorrhagic symptoms
Willebrand factor
Time frame: At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)
The Willebrand factor will be obtained from biological tests (in percentage of controls mean value)
Platelet function
Time frame: At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)
Platelet function will be obtained from biological tests (in percentage of controls mean value)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Dec 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Valérie GOIN MONSINJON contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Noonan Syndrome, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 2 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mathieu FIORE (05 57 65 64 78 ext. +33, mathieu.fiore@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
ISTH-BAT haemorrhagic score (time frame: At first clinical visit in the referent center (retrieved retrospectively at inclusion visit)). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Dec 2025; AzTrials last refreshed its copy on 26 Oct 2026.