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Phosphoproteomic Profile of Children With Down Syndrome

NCT06279208 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2025-04-25

No results posted yet for this study

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 plan to carry out a phosphoproteomic study to determine the phosphorylation profile of plasma proteins in children with Down's syndrome, and identify potential DYRK1A-dependent pathophysiological mechanisms and biomarkers involved in the natural course of cognition in children with Down's syndrome.

Conditions

  • Down Syndrome

Interventions

BIOLOGICAL

Blood sample

Recovery of plasma from the bottom of a blood collection tube.

Sponsors & Collaborators

  • Proteas Bioanalytics

    collaborator UNKNOWN

  • Göteborg University

    collaborator OTHER

  • Perha Pharmaceuticals

    lead INDUSTRY

Eligibility

Min Age
6 Years
Max Age
12 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-03-18
Primary Completion
2025-04-16
Completion
2025-04-16

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06279208 on ClinicalTrials.gov