Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Recruiting now · Not applicable
Conditions studied: Down Syndrome
In brief
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 facts
- Study ID
- NCT05767216
- Run by
- Institut Jerome Lejeune
- People needed
- 5
- Starts
- 2022-12-20
- Expected to finish
- 2028-12-30
- Last updated by the study team
- 2023-03-14
Who can join
Age: 4 and older, up to 11. Sex: male. Healthy volunteers: accepted.
You may qualify if…
- 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.
You may not qualify if…
- None
Where it is running
- Institut Jérôme Lejeune — Paris, France (enrolling)
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.