Noonan SyndromeNoonanNCT05202210
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
An observational study of Noonan Syndrome, run by University Hospital, Toulouse at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 to 99 years
- Conditions the study is for
- Noonan Syndrome
- What is being tested?
- blood and urine sampling
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 26 Jan 2022to 26 Jan 2032
- 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 18 to 99 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with Noonan syndrome
Who may be able to join
- 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)
Who cannot join
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Purpan University Hospital
Toulouse, 31059
Françoise Auriol, PhD, 5 61 77 10 95 ext. 0033, auriol.f@chu-toulouse.fr
About this study
Official title: 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.
Read the 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.
- Conditions
- Noonan Syndrome
- Being tested
- blood and urine sampling
- Keywords
- Biological collection, Noonan Syndrome
- Medical subject headings
- Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood and urine samplingBiological
extra sample of blood and urine will be collected
| Study group | Role | What they receive |
|---|---|---|
| patients with Noonan syndrome | extra sample of blood and urine will be collected and stored for research utilisation Receives: Biological: blood and urine sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Constitution of a biological collection from patients with Noonan or related syndromes.
extra sample of blood and urine will be collected
Measured: inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jan 2022
- Study start26 Jan 2022
- Primary completion26 Jan 2027 (estimated)
- Study completion26 Jan 2032 (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.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas EDOUARD, MD PhD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05202210
- Sponsor's protocol ID
- RC31/21/0361
- Acronym
- Noonan
- Status last verified
- Mar 2026
- First submitted
- 7 Jan 2022
- Last updated
- 19 Mar 2026
- 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 19 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression
- ClinicalTrials.gov ID
- NCT05202210
- Acronym / sponsor ID
- Noonan / RC31/21/0361
- Conditions
- Noonan Syndrome
- Keywords
- Biological collection, Noonan Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 26 Jan 2022 (actual)
- Primary completion
- 26 Jan 2027 (estimated)
- Study completion
- 26 Jan 2032 (estimated)
- First posted
- 21 Jan 2022 (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.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with Noonan syndrome | – | Biological: blood and urine samplingextra sample of blood and urine will be collected and stored for research utilisation |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Noonan syndrome
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (2 listed)
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
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 |
|---|---|---|
| blood and urine samplingextra sample of blood and urine will be collected | Biological | patients with Noonan syndrome |
Primary outcome
Constitution of a biological collection from patients with Noonan or related syndromes.
Time frame: inclusion
extra sample of blood and urine will be collected
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 19 Mar 2026.
- Individual participant dataSharing planned: No
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Registro Nazionale Sindrome Noonan / National Registry of Noonan Syndrome
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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.
Thomas EDOUARD, MD PhD principal investigator
University Hospital, Toulouse
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, Toulouse 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 2 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: looking for participants now, as of the sponsor's last update on 19 Mar 2026. 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 Thomas EDOUARD, MD, PhD (5 34 55 85 55 ext. 0033, edouard.t@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Constitution of a biological collection from patients with Noonan or related syndromes. (time frame: inclusion). 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 19 Mar 2026.