Phosphoproteomic Profile of Children With Down Syndrome

NCT06279208 | Completed

• 1 other identifier: 2023-A00272-43
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 9

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 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

Outcome Measures

Primary Outcomes (1)

• Phosphoproteomic profile

  The main objective is to determine a phosphoproteomic signature characteristic of the pathophysiological state of trisomy 21. Plasma protein phosphorylation profiles will be analyzed using the Proteas Bioanalytics Inc. platform on blood samples taken from children with trisomy 21, and compared with the phosphorylation profiles of children without trisomy 21 of the same age and sex. Analysis and comparison of trisomy and non-trisomy phosphorylation profiles will reveal a signature characteristic of trisomy 21, potentially reflected by significant differences in plasma protein phosphorylation levels (some of which may be of cerebral origin).

  6 months

Secondary Outcomes (3)

• Identification of brain proteins

  6 months

• Impact of environnement on phosphoproteomic profile

  6 months

• Impact of DYRK1A on Down Syndrome specific proteomic profile

  6 months

Study Arms (2)

Children with Down Syndrome

30 boys with Down Syndrome, between 6 and 12 years old, coming for a routine car consultation during which blood sampling is scheduled (6 different care dedicated centers).

Biological: Blood sample

Children without genetic abnormality

30 boys without genetic abnormality, between 6 and 12 years old, coming to an analysis laboratory for a blood test (3 different laboratories)

Biological: Blood sample

Interventions

Blood sample BIOLOGICAL

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

Children with Down Syndrome; Children without genetic abnormality

Eligibility Criteria

• Age: 6 Years - 12 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

30 Children with Down Syndrome and 30 children without genetic abnormality

You may qualify if:

• Clinical diagnosis of free and homogeneous trisomy 21,
• Body mass index (BMI): 15-25,
• Able to understand the study based on the pictorial information leaflet and give agreement/assent to participate,
• Parent present on the day of the visit to validate their child's consent/assent, if applicable.

You may not qualify if:

• Celiac disease,
• Autoimmune dysthyroidism,
• Type I autoimmune diabetes,
• Alopecia,
• Other autoimmune diseases,
• Current infectious pathology,
• History of infantile spasms,
• Autism spectrum disorders,
• Epilepsy,
• Central nervous system infections,
• Leukemia not in remission,
• Anti-inflammatory treatments (NSAIDs, local or systemic corticosteroids).

Sponsors & Collaborators

• Perha Pharmaceuticals: lead
• Proteas Bioanalytics: collaborator
• Göteborg University: collaborator

Study Sites (9)

CHRU de Brest

Brest, France

Location

CHU Grenoble

Grenoble, France

Location

Medilab

La Châtaigneraie, France

Location

Hospices Civils de Lyon

Lyon, France

Location

Medilab

Niort, France

Location

Institut Jérôme Lejeune

Paris, France

Location

Medilab

Parthenay, France

Location

CHU Rennes

Rennes, France

Location

CHU Saint-Etienne

Saint-Etienne, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma from blood samples taken during a routine care consultation.

MeSH Terms

Conditions

Down Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 19, 2024
• First Posted: February 28, 2024
• Study Start: March 18, 2024
• Primary Completion: April 16, 2025
• Study Completion: April 16, 2025
• Last Updated: April 25, 2025

Record last verified: 2025-04

Locations

FR (9)