Child SyndromeMetabNoonanNCT02383316
Study of Metabolic Modifications in Children With Noonan Syndrome
A study testing Oral Glucose tolerance test in people with Child Syndrome, run by University Hospital, Toulouse at 1 site in France.
Trial summary
Noonan syndrome (NS) is a rare genetic disease (incidence 1/2500 live births) characterized by the association of craniofacial manifestations, cardiopathies, short stature, and tumor predisposition. Read more about this study
- Who is it for?
- Ages 7 to 18 years
- Conditions the study is for
- Child Syndrome
- What is being tested?
- Oral Glucose tolerance test
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2015to Jun 2016
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 7 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Noonan syndrome genetically confirmed
- Informed consent obtained from children and parents
Who cannot join
- Chronic disease associated with variation of insulin sensitivity: body mass
- Treatment associated with variation of insulin sensitivity: corticoid treatment > 5 days preceding the study inclusion
- Tumoral disease (leukemia) in treatment
Trial locations and contacts
1 site in 1 country.
About this study
Noonan syndrome (NS) is a rare genetic disease (incidence 1/2500 live births) characterized by the association of craniofacial manifestations, cardiopathies, short stature, and tumor predisposition. The genetic causes of Noonan Syndrome are mutations of genes involved in the Ras/Mitogen-Activated Protein Kinases (MAPK) pathway, mainly the gene encoding the tyrosine phosphatase Shp2 (50% of patients).Shp2 appears to be involved in many facets of energy metabolism control (glucose homeostasis, adipose tissue function…), through mechanisms that are poorly understood. Several metabolic anomalies (reduced adiposity, improved glucose tolerance) have been recently identified in an original mouse model carrying Shp2 mutation. Moreover, recent clinical survey has shown that adult Noonan Syndrome patients are protected from developping overweight and obesity when compared to the general population. However, the metabolic status associated with Noonan Syndrome condition has not been explored to date.
Read the detailed description
Differential hormone sensitivity is associated with Noonan Syndrome and participates in the development of some symptoms. The investigators have demonstrated that MAPK upregulation in Noonan Syndrome is responsible for partial growth hormone (GH) insensitivity, and subsequent growth retardation.
Clinical traits evocative of energy metabolism dysfunctions have been recently reported in Noonan Syndrome patients, although the origins and consequences of these metabolic changes have not been documented to date. The aim of this study is to explore the metabolic status of children with Noonan Syndrome.
Children with Noonan Syndrome will be compared with age- and sex-matched healthy children. The investigators hypothesize than Noonan Syndrome children have an increased insulin sensitivity compared to GHD children.
Study parameters will be collected including: clinical measurements (height, weight, body mass index, waist circumference, and blood pressure), glucose and insulin levels at baseline and after an oral glucose tolerance test (OGTT), body composition measured by dual-energy x-ray absorptiometry (DXA).
The study will include only one visit.
- Conditions
- Child Syndrome
- Being tested
- Oral Glucose tolerance test
- Keywords
- Insulin sensitivity, Metabolism, Noonan syndrome, Shp2
- Medical subject headings
- Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects, Insulin Resistance, Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Oral Glucose tolerance testOther
Oral glucose tolerance test (OGTT): glucose and insulin levels will be measured at time points 0, 90 and 120 min or 30, 60, 90 and 120 after 1.75 g/Kg (max 75 g) glucose administration depending of the patient weight.
| Study group | Role | What they receive |
|---|---|---|
| Noonan Syndrome Children | Experimental | Children with Noonan Syndrome will be compared with age- and sex-matched healthy children. We hypothesize than Noonan Syndrome children have an increased insulin sensitivity compared to GHD children.
Study parameters will be collected including: clinical measurements (height, weight, body mass index, waist circumference, and blood pressure), glucose and insulin levels at baseline and after an oral glucose tolerance test (OGTT), body composition measured by dual-energy x-ray absorptiometry (DXA). Receives: Other: Oral Glucose tolerance test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Insulin sensitivity determined from the calculation of the Quantitative insulin sensitivity check index (QUICKI).
Measured at the patient's arrival (TO) from the blood levels of glucose and fasting insulin
Measured: T0 on an empty stomach
Secondary outcomes (8)
Insulin sensitivity determined with HOMA index
Glucose and insulin levels will be measured at time points 0, 90 and 120 min (children weigh 17-25kg) or 30, 60, 90 and 120 min (children weigh >25kg) after 1.75g/kg glucose administration (oral glucose tolerance test)
Measured: T30, T60, T90 and T120 minutes after oral glucose tolerance test
Blood pressure
These tests will be done on arrival in hospital before the oral glucose tolerance test. Blood pressure is measured after 10 minutes of rest in the elongated child.
Measured: T0
Blood level of hemoglobin A1c and ghrelin
Blood sample realised at T0 before the oral glucose tolerance test.
Measured: T0 on an empty stomach
Body composition as fat mass and muscle mass measured by dual-energy x-ray absorptiometry (DXA)
This test will be realised during hospitalisation day, except if it has been done up to 6 months prior to enrollment.
Measured: T0
Body mass index
This test will be realised during hospitalisation day, at patient arrival.
Measured: T0
Waist circumference
This test will be realised during hospitalisation day, at patient arrival.
Measured: T0
Blood level of leptin
Blood sample realised at T0 before the oral glucose tolerance test.
Measured: T0 on an empty stomach
Blood level of ghrelin
Blood sample realised at T0 before the oral glucose tolerance test.
Measured: T0 on an empty stomach
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Mar 2015 (estimated)
- Study startJan 2015
- Primary completionJun 2016
- Study completionJun 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Child 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas Edouard, MD, Principal investigator, CHU Toulouse, Hôpital des Enfants
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02383316
- Sponsor's protocol ID
- RC31/14/7315
- Other IDs
- AOL
- Acronym
- MetabNoonan
- Status last verified
- Feb 2018
- First submitted
- 23 Dec 2014
- Last updated
- 15 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Paccoud R, Saint-Laurent C, Piccolo E, Tajan M, Dortignac A, Pereira O, Le Gonidec S, Baba I, Gelineau A, Askia H, Branchereau M, Charpentier J, Personnaz J, Branka S, Auriau J, Deleruyelle S, Canouil M, Beton N, Salles JP, Tauber M, Weill J, Froguel P, Neel BG, Araki T, Heymes C, Burcelin R, Castan I, Valet P, Dray C, Gautier EL, Edouard T, Pradere JP, Yart A. SHP2 drives inflammation-triggered insulin resistance by reshaping tissue macrophage populations. Sci Transl Med. 2021 Apr 28;13(591):eabe2587. doi: 10.1126/scitranslmed.abe2587. Epub 2021 Apr 28.
PubMed 33910978
Study at a glance
From the registry record, last updated by the sponsor on 15 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Metabolic Modifications in Children With Noonan Syndrome
- ClinicalTrials.gov ID
- NCT02383316
- Acronym / sponsor ID
- MetabNoonan / RC31/14/7315
- Conditions
- Child Syndrome
- Keywords
- Insulin sensitivity, Metabolism, Noonan syndrome, Shp2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- Jan 2015
- Primary completion
- Jun 2016 (actual)
- Study completion
- Jun 2016 (actual)
- First posted
- 9 Mar 2015 (estimated)
- 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 (NS) is a rare genetic disease (incidence 1/2500 live births) characterized by the association of craniofacial manifestations, cardiopathies, short stature, and tumor predisposition. The genetic causes of Noonan Syndrome are mutations of genes involved in the Ras/Mitogen-Activated Protein Kinases (MAPK) pathway, mainly the gene encoding the tyrosine phosphatase Shp2 (50% of patients).Shp2 appears to be involved in many facets of energy metabolism control (glucose homeostasis, adipose tissue function…), through mechanisms that are poorly understood. Several metabolic anomalies (reduced adiposity, improved glucose tolerance) have been recently identified in an original mouse model carrying Shp2 mutation. Moreover, recent clinical survey has shown that adult Noonan Syndrome patients are protected from developping overweight and obesity when compared to the general population. However, the metabolic status associated with Noonan Syndrome condition has not been explored to date.
Detailed description
Differential hormone sensitivity is associated with Noonan Syndrome and participates in the development of some symptoms. The investigators have demonstrated that MAPK upregulation in Noonan Syndrome is responsible for partial growth hormone (GH) insensitivity, and subsequent growth retardation.
Clinical traits evocative of energy metabolism dysfunctions have been recently reported in Noonan Syndrome patients, although the origins and consequences of these metabolic changes have not been documented to date. The aim of this study is to explore the metabolic status of children with Noonan Syndrome.
Children with Noonan Syndrome will be compared with age- and sex-matched healthy children. The investigators hypothesize than Noonan Syndrome children have an increased insulin sensitivity compared to GHD children.
Study parameters will be collected including: clinical measurements (height, weight, body mass index, waist circumference, and blood pressure), glucose and insulin levels at baseline and after an oral glucose tolerance test (OGTT), body composition measured by dual-energy x-ray absorptiometry (DXA).
The study will include only one visit.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Noonan Syndrome Children | Experimental | Other: Oral Glucose tolerance testChildren with Noonan Syndrome will be compared with age- and sex-matched healthy children. We hypothesize than Noonan Syndrome children have an increased insulin sensitivity compared to GHD children. Study parameters will be collected including: clinical measurements (height, weight, body mass index, waist circumference, and blood pressure), glucose and insulin levels at baseline and after an oral glucose tolerance test (OGTT), body composition measured by dual-energy x-ray absorptiometry (DXA). |
Who may qualify
- Ages
- 7 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- Noonan syndrome genetically confirmed
- Informed consent obtained from children and parents
Key exclusion criteria (3 listed)
- Chronic disease associated with variation of insulin sensitivity: body mass
- Treatment associated with variation of insulin sensitivity: corticoid treatment > 5 days preceding the study inclusion
- Tumoral disease (leukemia) in treatment
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 |
|---|---|---|
| Oral Glucose tolerance testOral glucose tolerance test (OGTT): glucose and insulin levels will be measured at time points 0, 90 and 120 min or 30, 60, 90 and 120 after 1.75 g/Kg (max 75 g) glucose administration depending of the patient weight. | Other | Noonan Syndrome Children |
Primary outcome
Insulin sensitivity determined from the calculation of the Quantitative insulin sensitivity check index (QUICKI).
Time frame: T0 on an empty stomach
Measured at the patient's arrival (TO) from the blood levels of glucose and fasting insulin
8 secondary outcomes
Insulin sensitivity determined with HOMA index
Time frame: T30, T60, T90 and T120 minutes after oral glucose tolerance test
Blood pressure
Time frame: T0
Blood level of hemoglobin A1c and ghrelin
Time frame: T0 on an empty stomach
Body composition as fat mass and muscle mass measured by dual-energy x-ray absorptiometry (DXA)
Time frame: T0
Body mass index
Time frame: T0
Waist circumference
Time frame: T0
Blood level of leptin
Time frame: T0 on an empty stomach
Blood level of ghrelin
Time frame: T0 on an empty stomach
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Dec 2025.
- Results publication: PubMed 33910978Paccoud R, Saint-Laurent C, Piccolo E, Tajan M, Dortignac A, Pereira O, Le Gonidec S, Baba I, Gelineau A, Askia H, Branchereau M, Charpentier J, Personnaz J, Branka S, Auriau J, Deleruyelle S, Canouil M, Beton N, Salles JP, Tauber M, Weill J, Froguel P, Neel BG, Araki T, Heymes C, Burcelin R, Castan I, Valet P, Dray C, Gautier EL, Edouard T, Pradere JP, Yart A. SHP2 drives inflammation-triggered insulin resistance by reshaping tissue macrophage populations. Sci Transl Med. 2021 Apr 28;13(591):eabe2587. doi: 10.1126/scitranslmed.abe2587. Epub 2021 Apr 28.
- Individual participant dataSharing planned: No
Related trials for Child Syndrome
RecruitingPhase 3
Investigate Efficacy and Safety of Carisbamate as Adjunctive Treatment for Seizures Associated With LGS in Children and Adults
Seizures, Lennox Gastaut Syndrome
Not yet recruitingPhase 4
Oral Switch in Bloodstream Infections in Immunocompromised Children
Bloodstream Infection, Bloodstream Infection Due to Central Venous Catheter
Recruiting
Transcranial Magnetic Stimulation for Restricted and Repetitive Behavior in ASD
Autism Spectrum Disorder, Autism
RecruitingPhase 1/2
Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
X-linked Severe Combined Immunodeficiency (XSCID)
RecruitingPhase 3
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
Turner Syndrome, Short Stature Homeobox Gene Mutation
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. This study is not recruiting at the moment.
Thomas Edouard, MD principal investigator
CHU Toulouse, Hôpital des Enfants
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Oral Glucose tolerance test in people with Child 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 2 inclusion and 3 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: finished, as of the sponsor's last update on 15 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Insulin sensitivity determined from the calculation of the Quantitative insulin sensitivity check index (QUICKI). (time frame: T0 on an empty stomach). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02383316, which also lists 1 linked publication.
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 15 Dec 2025.