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NCT Number: NCT05767216

Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome

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.

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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

4 year–11 year

Sex eligibility

Male

Study type

Interventional

Phase

Not applicable

Primary location

Institut Jérôme Lejeune

Paris, 75015, France

Location status: Recruiting

Location contact

Sophie Durand

CONTACT

[email protected]

0156586300

About this study

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

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • 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.

Exclusion criteria

  • None

Treatment and study plan

Biological sampling

Other

Blood, skin and stool samples for laboratory analysis

Primary outcomes

  1. Analysis of the coding and non-coding genetic variations between participants

    Time frame: 1 year

    Whole Genome Sequencing of DNA samples

  2. Study of epigenetic modifications

    Time frame: 1 year

    DNA methylation pattern

  3. Identification of active genes

    Time frame: 1 year

    Analysis of transcriptomic profile from RNA samples

  4. Determination of the mechanisms of genes regulation

    Time frame: 1 year

    Analysis of transcriptomic profile from RNA samples

  5. Definition of the network of genes expression

    Time frame: 1 year

    Analysis of transcriptomic profile from RNA samples

  6. Identification of the proteins regulated differently

    Time frame: 1 year

    Analysis of proteomic profile from plasma samples

  7. Link specific proteins to some specific complications seen in patients with Down syndrome

    Time frame: 1 year

    Analysis of proteomic profile from plasma samples

Study contacts

Contact information is provided by the study sponsor or research team.

Sophie Durand

CONTACT

[email protected]

0033156586300

Sponsors and collaborators

Lead sponsor

Institut Jerome Lejeune

Other

Registry information

Acronym: Colibri

Important dates

Study start
2022
Primary completion
2023
Study completion
2028
First posted
Mar 14, 2023
Registry last updated
Mar 14, 2023

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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