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

Sponsor
Institut Jerome Lejeune
Study ID
NCT05767216
Status
Recruiting
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Conditions

  • Down Syndrome

Eligibility Criteria

Sex
MALE
Age
4 Years - 11 Years
Healthy Volunteers
Accepted

Interventions

  • Biological sampling — OTHER
    Blood, skin and stool samples for laboratory analysis

Study Details

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.

Key Dates

First listed
Mar 14, 2023
Start date
Dec 20, 2022
Status verified
Mar 2023
Primary completion
Dec 30, 2023
Completion
Dec 30, 2028

Study Design

Enrollment
5 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE

Arms

  • Other: Down syndrome children
    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.

Primary Outcome Measure

Analysis of the coding and non-coding genetic variations between participants [ Time Frame: 1 year ]

Central Contacts

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