Down SyndromePEPSNCT06279208
Phosphoproteomic Profile of Children With Down Syndrome
An observational study of Down Syndrome, run by Perha Pharmaceuticals at 9 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 12 years, men only
- Conditions the study is for
- Down Syndrome
- What is being tested?
- Blood sample
- How many people
- 60 participants
- Where
- 9 sitesFrance
- Study dates
- 18 Mar 2024to 16 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 12 years
- Men only
- No healthy volunteers
- Child
Study population: 30 Children with Down Syndrome and 30 children without genetic abnormality
Who may be able to join
- 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.
Who cannot join
- Celiac disease,
- Autoimmune dysthyroidism,
- Type I autoimmune diabetes,
- Alopecia,
- Other autoimmune diseases,
- Current infectious pathology,
Show all 12Show fewer
- History of infantile spasms,
- Autism spectrum disorders,
- Epilepsy,
- Central nervous system infections,
- Leukemia not in remission,
- Anti-inflammatory treatments (NSAIDs, local or systemic corticosteroids).
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
France9 sites
CHRU de Brest
Brest
CHU Grenoble
Grenoble
Medilab
La Châtaigneraie
Hospices Civils de Lyon
Lyon
Medilab
Niort
Institut Jérôme Lejeune
Paris
Medilab
Parthenay
CHU Rennes
Rennes
CHU Saint-Etienne
Saint-Etienne
About this study
Official title: Exploratory Phosphoproteomic Study to Discover DYRK1A-Dependent Blood Biomarkers in TriSomy 21 Carriers
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.
Read the 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.
- Conditions
- Down Syndrome
- Being tested
- Blood sample
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
Recovery of plasma from the bottom of a blood collection tube.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: 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) Receives: Biological: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 6 months
Secondary outcomes (3)
Identification of brain proteins
To determine whether the phosphoproteomic profiles characteristic of trisomy 21 make it possible to identify brain proteins (exosomes),
Measured: 6 months
Impact of environnement on phosphoproteomic profile
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,
Measured: 6 months
Impact of DYRK1A on Down Syndrome specific proteomic profile
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,
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2024
- Study start18 Mar 2024
- Primary completion16 Apr 2025
- Study completion16 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Perha Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Proteas Bioanalytics, Göteborg University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06279208
- Sponsor's protocol ID
- 2023-A00272-43
- Acronym
- PEPS
- Status last verified
- Apr 2025
- First submitted
- 19 Feb 2024
- Last updated
- 25 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 25 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploratory Phosphoproteomic Study to Discover DYRK1A-Dependent Blood Biomarkers in TriSomy 21 Carriers
- ClinicalTrials.gov ID
- NCT06279208
- Acronym / sponsor ID
- PEPS / 2023-A00272-43
- Conditions
- Down Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Perha PharmaceuticalsIndustry (pharma, biotech, devices)
- Collaborators
- Proteas Bioanalytics, Göteborg University
- Study start
- 18 Mar 2024 (actual)
- Primary completion
- 16 Apr 2025 (actual)
- Study completion
- 16 Apr 2025 (actual)
- First posted
- 28 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Children with Down Syndrome | – | Biological: Blood sample30 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). |
| Children without genetic abnormality | – | Biological: Blood sample30 boys without genetic abnormality, between 6 and 12 years old, coming to an analysis laboratory for a blood test (3 different laboratories) |
Who may qualify
- Ages
- 6 to 12 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 30 Children with Down Syndrome and 30 children without genetic abnormality
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (12 listed)
- Celiac disease,
- Autoimmune dysthyroidism,
- Type I autoimmune diabetes,
- Alopecia,
- Other autoimmune diseases,
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampleRecovery of plasma from the bottom of a blood collection tube. | Biological | Children with Down Syndrome, Children without genetic abnormality |
Primary outcome
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).
3 secondary outcomes
Identification of brain proteins
Time frame: 6 months
Impact of environnement on phosphoproteomic profile
Time frame: 6 months
Impact of DYRK1A on Down Syndrome specific proteomic profile
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Apr 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome, run by Perha Pharmaceuticals at 9 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phosphoproteomic profile (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Apr 2025.