Actively Recruiting
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Led by Institut Jerome Lejeune · Updated on 2023-03-14
5
Participants Needed
1
Research Sites
314 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Twins of a heterokaryotypic monozygotic pair discordant for Down syndrome
- Twins of a sex- and age-matched dizygotic pair discordant for Down syndrome
- Sex- and age-matched patient with mosaic trisomy 21
- Parents or legal representatives willing to provide written informed consent
- Ability and willingness of subject and parents/legal representatives to comply with the protocol
- Subject covered by social welfare
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Institut Jérôme Lejeune
Paris, France, 75015
Actively Recruiting
Research Team
S
Sophie Durand
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
BASIC_SCIENCE
Number of Arms
1
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