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Recruiting NCT05767216

NCT05767216 Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome

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Clinical Trial Summary
NCT ID NCT05767216
Status Recruiting
Phase
Sponsor Institut Jerome Lejeune
Condition Down Syndrome
Study Type INTERVENTIONAL
Enrollment 5 participants
Start Date 2022-12-20
Primary Completion 2023-12-30

Eligibility & Interventions

Sex Male only
Min Age 4 Years
Max Age 11 Years
Study Type INTERVENTIONAL
Interventions
Biological sampling

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.

This trial targets 5 participants in total. It began in 2022-12-20 with a primary completion date of 2023-12-30.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief 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.

Eligibility Criteria

Inclusion Criteria: * 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. Exclusion Criteria: * None

Contact & Investigator

Central Contact

Sophie Durand

✉ sophie.durand@institutlejeune.org

📞 0033156586300

Frequently Asked Questions

Who can join the NCT05767216 clinical trial?

This trial is open to male participants only, aged 4 Years or older, up to 11 Years, studying Down Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT05767216 currently recruiting?

Yes, NCT05767216 is actively recruiting participants. Contact the research team at sophie.durand@institutlejeune.org for enrollment information.

Where is the NCT05767216 trial being conducted?

This trial is being conducted at Paris, France.

Who is sponsoring the NCT05767216 clinical trial?

NCT05767216 is sponsored by Institut Jerome Lejeune. The trial plans to enroll 5 participants.

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