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First received: February 19, 2024

Clinical Trial: Phosphoproteomic Profile of Children With Down Syndrome

Study Status: COMPLETED

Recruit Status: COMPLETED

Condition: Down Syndrome

Study Type: OBSERVATIONAL


Official Title: Exploratory Phosphoproteomic Study to Discover DYRK1A-Dependent Blood Biomarkers in TriSomy 21 Carriers

Brief Summary: One of the major causes of cognitive disorders limiting the learning abilities of children with Down's syndrome is excess activity of the DYRK1A protein kinase, whose gene is located on chromosome 21.Consequently, variations in the level of phosphorylation, and hence activity, of DYRK1A target proteins involved in synaptic transmission, could identify mechanisms underlying these cognitive disorders.Several studies have shown that plasma proteins can reflect a pathophysiological brain state.The investigators…

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