Ignite Creation Date:
2024-05-06 @ 8:09 PM
Last Modification Date:
2024-10-26 @ 3:22 PM
Study NCT ID:
NCT06279208
Status:
RECRUITING
Last Update Posted:
2024-07-10
First Post:
2024-02-19
Brief Title:
Phosphoproteomic Profile of Children With Down Syndrome
Sponsor:
Perha Pharmaceuticals
Organization:
Perha Pharmaceuticals
Study Overview
Official Title:
Exploratory Phosphoproteomic Study to Discover DYRK1A-Dependent Blood Biomarkers in TriSomy 21 Carriers
Status:
RECRUITING
Status Verified Date:
2024-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
PEPS
Brief Summary:
One of the major causes of cognitive disorders limiting the learning abilities of children with Downs 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 plan to carry out a phosphoproteomic study to determine the phosphorylation profile of plasma proteins in children with Downs syndrome and identify potential DYRK1A-dependent pathophysiological mechanisms and biomarkers involved in the natural course of cognition in children with Downs syndrome
Several studies have shown that plasma proteins can reflect a pathophysiological brain state The investigators plan to carry out a phosphoproteomic study to determine the phosphorylation profile of plasma proteins in children with Downs syndrome and identify potential DYRK1A-dependent pathophysiological mechanisms and biomarkers involved in the natural course of cognition in children with Downs syndrome
Detailed Description:
During a consultation in their usual care department dedicated to the care of children with trisomy 21 the children with trisomy 21 and their parents present will be informed about the study An additional 2 mL of blood from a blood sample taken as part of the consultation will be drawn for the study by experienced nurses as part of their usual care
Plasma from this remaining volume will be fixed and analyzed to determine a phosphoproteomic profile
Multidimensional liquid chromatography with ultra-high resolution mass spectrometry will be used to analyze the native proteome and to obtain expression and phosphorylation levels of plasma proteins
Similar procedure will be performed on remaining blood samples of boys without genetic abnormality having blood analysis
Phosphoproteomic profiles of children with Down Syndrome and children without genetic abnormality will be compared to identify specific biomarkers of Down Syndrome
Plasma from this remaining volume will be fixed and analyzed to determine a phosphoproteomic profile
Multidimensional liquid chromatography with ultra-high resolution mass spectrometry will be used to analyze the native proteome and to obtain expression and phosphorylation levels of plasma proteins
Similar procedure will be performed on remaining blood samples of boys without genetic abnormality having blood analysis
Phosphoproteomic profiles of children with Down Syndrome and children without genetic abnormality will be compared to identify specific biomarkers of Down Syndrome
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None