Study of Metabolic Modifications in Children With Noonan Syndrome (MetabNoonan)
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ClinicalTrials.gov Identifier: NCT02383316 |
Recruitment Status :
Completed
First Posted : March 9, 2015
Last Update Posted : February 6, 2018
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Child Syndrome | Other: Oral Glucose tolerance test | Not Applicable |
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 Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 20 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Basic Science |
Official Title: | Study of Metabolic Modifications in Children With Noonan Syndrome |
Study Start Date : | January 2015 |
Actual Primary Completion Date : | June 2016 |
Actual Study Completion Date : | June 2016 |

Arm | Intervention/treatment |
---|---|
Experimental: Noonan Syndrome Children
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). |
Other: Oral Glucose tolerance test
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. |
- 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
- Insulin sensitivity determined with HOMA index [ Time Frame: T30, T60, T90 and T120 minutes after oral glucose tolerance test ]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)
- Blood pressure [ Time Frame: T0 ]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.
- Blood level of hemoglobin A1c and ghrelin [ Time Frame: T0 on an empty stomach ]Blood sample realised at T0 before the oral glucose tolerance test.
- Body composition as fat mass and muscle mass measured by dual-energy x-ray absorptiometry (DXA) [ Time Frame: T0 ]This test will be realised during hospitalisation day, except if it has been done up to 6 months prior to enrollment.
- Body mass index [ Time Frame: T0 ]This test will be realised during hospitalisation day, at patient arrival.
- Waist circumference [ Time Frame: T0 ]This test will be realised during hospitalisation day, at patient arrival.
- Blood level of leptin [ Time Frame: T0 on an empty stomach ]Blood sample realised at T0 before the oral glucose tolerance test.
- Blood level of ghrelin [ Time Frame: T0 on an empty stomach ]Blood sample realised at T0 before the oral glucose tolerance test.

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Ages Eligible for Study: | 7 Years to 18 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Noonan syndrome genetically confirmed
- Informed consent obtained from children and parents
Exclusion Criteria:
- 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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02383316
France | |
CHU Toulouse - Hôpital des Enfants | |
Toulouse, France, 31052 |
Principal Investigator: | Thomas Edouard, MD | CHU Toulouse, Hôpital des Enfants |
Responsible Party: | University Hospital, Toulouse |
ClinicalTrials.gov Identifier: | NCT02383316 |
Other Study ID Numbers: |
RC31/14/7315 AOL ( Other Grant/Funding Number: University Hospital Toulouse, local funding 2014 ) |
First Posted: | March 9, 2015 Key Record Dates |
Last Update Posted: | February 6, 2018 |
Last Verified: | February 2018 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Insulin sensitivity Metabolism Noonan syndrome Shp2 |
Noonan Syndrome Syndrome Disease Pathologic Processes Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases |
Heart Defects, Congenital Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Congenital Abnormalities Connective Tissue Diseases |