Down SyndromeColibriNCT05767216
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
A study testing Biological sampling in people with Down Syndrome, run by Institut Jerome Lejeune at 1 site in France.
Trial summary
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population. Read more about this study
- Who is it for?
- Ages 4 to 11 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome
- What is being tested?
- Biological sampling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteFrance
- Study dates
- 20 Dec 2022to 30 Dec 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 4 to 11 years
- Men only
- Healthy volunteers accepted
- Child
Who may be able to join
- Twins of a heterokaryotypic monozygotic pair discordant for DS
- Twins of a sex- and class of age-matched dizygotic pair discordant for DS,
- Sex- and class of age-matched patient with mosaic T21
- Subject's parents/legal representatives willing to give written informed consent.
- Subject and his/her parents/legal representatives must be able/willing to comply with the protocol.
- Subject covered by social welfare.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Institut Jérôme Lejeune
Paris, 75015
Sophie Durand, 0156586300, sophie.durand@institutlejeune.org
About this study
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population. Sharing the same genetic patrimony, except for an additional chromosome 21 for one of them, any gene-expression difference between them could be attributed only to the supernumerary chromosome 21 and not to polymorphic variability in the rest of the genome. The setting up of a prospective longitudinal study will offer the major advantage of allowing genetic and epigenetic comparisons between them and to obtain important information on the impact of the environment in which they live and grow up.
Read the detailed description
It is planned to perform multi-omics analyses in order to reach an integrated understanding of the effect of genomic changes on protein expression, on biochemical posttranslational modifications of the synthetized proteins and on the modulation of some signalling pathways.
This study will also allow the generation of induced Pluripotent Stem Cells (iPSCs) from blood cells and fibroblasts of the monozygotic twins useful as in-vitro models to study the pathogenesis and the pathophysiology of Down syndrome. All this may shed the light on new research approaches in Down syndrome.
At last, the human gut microbiome, referring to the total microbial population in the human gastrointestinal tract, although thought to have its own impact, will also be studied. The microbiome is known to play a crucial role mainly in protecting the host against pathogenic microbes, modulating immunity, regulating metabolic processes, and controlling neuropsychiatric behaviour
- Conditions
- Down Syndrome
- Being tested
- Biological sampling
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological samplingOther
Blood, skin and stool samples for laboratory analysis
| Study group | Role | What they receive |
|---|---|---|
| Down syndrome children | Other | Two pairs of twins discordant for Down syndrome and 1 children with mosaic Down syndrome will be recruited. Blood, skin and feces samples will be specifically collected for the purpose of the study. Receives: Other: Biological sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Analysis of the coding and non-coding genetic variations between participants
Whole Genome Sequencing of DNA samples
Measured: 1 year
Study of epigenetic modifications
DNA methylation pattern
Measured: 1 year
Identification of active genes
Analysis of transcriptomic profile from RNA samples
Measured: 1 year
Determination of the mechanisms of genes regulation
Analysis of transcriptomic profile from RNA samples
Measured: 1 year
Definition of the network of genes expression
Analysis of transcriptomic profile from RNA samples
Measured: 1 year
Identification of the proteins regulated differently
Analysis of proteomic profile from plasma samples
Measured: 1 year
Link specific proteins to some specific complications seen in patients with Down syndrome
Analysis of proteomic profile from plasma samples
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2023
- Study start20 Dec 2022
- Primary completion30 Dec 2023 (estimated)
- Study completion30 Dec 2028 (estimated)
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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Jerome Lejeune
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05767216
- Sponsor's protocol ID
- Colibri
- Acronym
- Colibri
- Status last verified
- Mar 2023
- First submitted
- 7 Feb 2023
- Last updated
- 14 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
- ClinicalTrials.gov ID
- NCT05767216
- Acronym / sponsor ID
- Colibri / Colibri
- Conditions
- Down Syndrome
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- Institut Jerome LejeuneUniversity, hospital or other
- Study start
- 20 Dec 2022 (actual)
- Primary completion
- 30 Dec 2023 (estimated)
- Study completion
- 30 Dec 2028 (estimated)
- First posted
- 14 Mar 2023 (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.
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population. Sharing the same genetic patrimony, except for an additional chromosome 21 for one of them, any gene-expression difference between them could be attributed only to the supernumerary chromosome 21 and not to polymorphic variability in the rest of the genome. The setting up of a prospective longitudinal study will offer the major advantage of allowing genetic and epigenetic comparisons between them and to obtain important information on the impact of the environment in which they live and grow up.
Detailed description
It is planned to perform multi-omics analyses in order to reach an integrated understanding of the effect of genomic changes on protein expression, on biochemical posttranslational modifications of the synthetized proteins and on the modulation of some signalling pathways.
This study will also allow the generation of induced Pluripotent Stem Cells (iPSCs) from blood cells and fibroblasts of the monozygotic twins useful as in-vitro models to study the pathogenesis and the pathophysiology of Down syndrome. All this may shed the light on new research approaches in Down syndrome.
At last, the human gut microbiome, referring to the total microbial population in the human gastrointestinal tract, although thought to have its own impact, will also be studied. The microbiome is known to play a crucial role mainly in protecting the host against pathogenic microbes, modulating immunity, regulating metabolic processes, and controlling neuropsychiatric behaviour
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Down syndrome children | Other | Other: Biological samplingTwo pairs of twins discordant for Down syndrome and 1 children with mosaic Down syndrome will be recruited. Blood, skin and feces samples will be specifically collected for the purpose of the study. |
Who may qualify
- Ages
- 4 to 11 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- Twins of a heterokaryotypic monozygotic pair discordant for DS
- Twins of a sex- and class of age-matched dizygotic pair discordant for DS,
- Sex- and class of age-matched patient with mosaic T21
- Subject's parents/legal representatives willing to give written informed consent.
- Subject and his/her parents/legal representatives must be able/willing to comply with the protocol.
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| Biological samplingBlood, skin and stool samples for laboratory analysis | Other | Down syndrome children |
Primary outcome
Analysis of the coding and non-coding genetic variations between participants
Time frame: 1 year
Whole Genome Sequencing of DNA samples
Study of epigenetic modifications
Time frame: 1 year
DNA methylation pattern
Identification of active genes
Time frame: 1 year
Analysis of transcriptomic profile from RNA samples
Determination of the mechanisms of genes regulation
Time frame: 1 year
Analysis of transcriptomic profile from RNA samples
Definition of the network of genes expression
Time frame: 1 year
Analysis of transcriptomic profile from RNA samples
Identification of the proteins regulated differently
Time frame: 1 year
Analysis of proteomic profile from plasma samples
Link specific proteins to some specific complications seen in patients with Down syndrome
Time frame: 1 year
Analysis of proteomic profile from plasma samples
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Mar 2023.
- Individual participant dataSharing planned: No
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Down Syndrome
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biological sampling in people with Down Syndrome, run by Institut Jerome Lejeune at 1 site 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 6 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 14 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophie Durand (0033156586300, sophie.durand@institutlejeune.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Analysis of the coding and non-coding genetic variations between participants (time frame: 1 year). The study lists 7 primary outcomes in all. 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 14 Mar 2023.