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

NCT05767216 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 5

Last updated 2023-03-14

No results posted yet for this study

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. 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.

Conditions

  • Down Syndrome

Interventions

OTHER

Biological sampling

Blood, skin and stool samples for laboratory analysis

Sponsors & Collaborators

  • Institut Jerome Lejeune

    lead OTHER

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
4 Years
Max Age
11 Years
Sex
MALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-12-20
Primary Completion
2023-12-30
Completion
2028-12-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05767216 on ClinicalTrials.gov