Investigating genetic differences in twins with and without Down syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on heterokaryotypic monozygotic twins who are discordant for Down syndrome, aiming to explore genetic and epigenetic variations between them. By conducting multi-omics analyses, researchers will assess how genomic changes affect protein expression and biochemical modifications, while also examining the influence of environmental factors. The study will generate induced pluripotent stem cells from the twins' blood and fibroblasts to create in-vitro models for further investigation into Down syndrome pathogenesis. Additionally, the human gut microbiome will be analyzed for its potential role in health and disease.

Why it matters

Who can join: the full rules

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

Where it's running

• Institut Jérôme Lejeune
  Paris, France Recruiting

Study contacts

• Study coordinator: Sophie Durand
• Email: sophie.durand@institutlejeune.org
• Phone: 0033156586300

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Thymus removal and immune aging in people with Down syndrome

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.