Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Key facts
- Who runs it
- Institut Jerome Lejeune
- Where
- Paris, FranceSee the site
- Trial code
- Status
- Recruiting
- People taking part
- 5 people, planned
- Started
- 20 Dec 2022
- Expected to end
- 30 Dec 2028
- Type of study
- Interventional
- Treatments tested
- Biological sampling
- Record updated
- 14 March 2023
Who can take part
- Age
- 4 years to 11 years
- Sex
- Men only
- Healthy volunteers
- Can take part
The registry criteria, word for word
Show all 7 criteriaShow less
Who can take part
- 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 take part
- None
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 4 and 11 years old?
Where in France
- Institut Jerome LejeuneParis, FranceContact: Sophie DurandTaking people
About the trial
What the trial wants to find out
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.
The group in the trial
- Down syndrome childrenOther group
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.
Treatment: Biological sampling
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Fit questions
- Built from NCT05767216, who can take part
- Record updated
- 14 March 2023