Study of Metabolic Modifications in Children With Noonan Syndrome (NCT02383316) | Clinical Trial Compass
CompletedNot Applicable
Study of Metabolic Modifications in Children With Noonan Syndrome
France20 participantsStarted 2015-01
Plain-language 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. 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.
Who can participate
Age range
7 Years – 18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This study looked at insulin sensitivity in children with Noonan syndrome using something called the QUICKI index — can you explain what that measure tells us about my child's metabolism, and whether it's something we should be tracking in their care?
2Since this trial has already been completed, have the results been published, and if so, what did they find about metabolic changes in children with Noonan syndrome?
3Noonan syndrome can affect growth and hormone levels — does my child's current metabolic health suggest they could be at risk for insulin sensitivity problems, and should we be monitoring for that?
4Are there any follow-up studies or active trials building on what this study found that might be relevant for my child's ongoing care?
5Based on what this kind of research has shown, are there any lifestyle, dietary, or medical strategies you'd recommend now to support my child's metabolic health given their Noonan syndrome diagnosis?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Insulin sensitivity determined from the calculation of the Quantitative insulin sensitivity check index (QUICKI).