Child Syndrome Clinical Trial
Official title:
Study of Metabolic Modifications in Children With Noonan Syndrome
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.
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.
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