Investigating genetic differences in twins with and without Down syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
This study is trying to understand the genetic differences between twins, one with Down syndrome and one without, to see how these differences might affect their health and development.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 5 (estimated) |
| Ages | 4 Years to 11 Years |
| Sex | Male |
| Sponsor | Institut Jerome Lejeune Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT05767216 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include heterokaryotypic monozygotic twins discordant for Down syndrome and age-matched dizygotic twins or patients with mosaic Down syndrome.
Not a fit: Patients who are not part of a heterokaryotypic monozygotic twin pair or do not have a genetic connection to Down syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to new insights and therapeutic approaches for Down syndrome.
How similar studies have performed: While studies on twins and genetic variations exist, this specific approach focusing on heterokaryotypic monozygotic twins is relatively novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Paris
- Institut Jérôme Lejeune — Paris, France (Recruiting)
Study contacts
- Study coordinator: Sophie Durand
- Email: sophie.durand@institutlejeune.org
- Phone: 0033156586300
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.