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NCT Number: NCT06279208

Phosphoproteomic Profile of Children With Down Syndrome

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.

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Key information

Conditions

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

Age range

6 year–12 year

Sex eligibility

Male

Study type

Observational

Primary location

CHRU de Brest, Brest, France

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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).

Treatment and study plan

Blood sample

Biological

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

Primary outcomes

  1. Phosphoproteomic profile

    Time frame: 6 months

    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).

Secondary outcomes

  1. Identification of brain proteins

    Time frame: 6 months

    To determine whether the phosphoproteomic profiles characteristic of trisomy 21 make it possible to identify brain proteins (exosomes),

  2. Impact of environnement on phosphoproteomic profile

    Time frame: 6 months

    To determine whether the differences potentially observed between the phosphoproteomic profiles of children with and without trisomy 21 correlate with the biological and socio-epidemiological data of children with trisomy 21,

  3. Impact of DYRK1A on Down Syndrome specific proteomic profile

    Time frame: 6 months

    Determine whether the differences potentially observed between the phosphoproteomic profiles of children with and without trisomy 21 are correlated with the level of DYRK1A expression,

Sponsors and collaborators

Lead sponsor

Perha Pharmaceuticals

Industry

Collaborators

  • Göteborg University
  • Proteas Bioanalytics

Registry information

Official study title

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

Acronym: PEPS

Important dates

Study start
2024
Primary completion
2025
Study completion
2025
First posted
Feb 28, 2024
Registry last updated
Apr 25, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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