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

NCT05767216 | Recruiting

• 1 other identifier: Colibri
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

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.

Conditions

Down Syndrome

Outcome Measures

Primary Outcomes (7)

• Analysis of the coding and non-coding genetic variations between participants

  Whole Genome Sequencing of DNA samples

  1 year

• Study of epigenetic modifications

  DNA methylation pattern

  1 year

• Identification of active genes

  Analysis of transcriptomic profile from RNA samples

  1 year

• Determination of the mechanisms of genes regulation

  Analysis of transcriptomic profile from RNA samples

  1 year

• Definition of the network of genes expression

  Analysis of transcriptomic profile from RNA samples

  1 year

• Identification of the proteins regulated differently

  Analysis of proteomic profile from plasma samples

  1 year

• Link specific proteins to some specific complications seen in patients with Down syndrome

  Analysis of proteomic profile from plasma samples

  1 year

Study Arms (1)

Down syndrome children

OTHER

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.

Other: Biological sampling

Interventions

Biological sampling OTHER

Blood, skin and stool samples for laboratory analysis

Down syndrome children

Eligibility Criteria

• Age: 4 Years - 11 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

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

Sponsors & Collaborators

• Institut Jerome Lejeune: lead

Study Sites (1)

Institut Jérôme Lejeune

Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Central Study Contacts

Sophie Durand

CONTACT

0033156586300; sophie.durand@institutlejeune.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 7, 2023
• First Posted: March 14, 2023
• Study Start: December 20, 2022
• Primary Completion: December 30, 2023
• Study Completion (Estimated): December 30, 2028
• Last Updated: March 14, 2023

Record last verified: 2023-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)