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OpenTrials
Completed

NCT Number: NCT02859688

Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents

Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases.

However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic re-programing, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has important implication for genetic counseling.

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Key information

Conditions

Epimutation

Age range

18 year and older

Sex eligibility

Male

Study type

Observational

Primary location

CHU Dijon Bourgogne

Dijon, 21079, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Men who have been informed about the study
  • Patients over 18 years old
  • Fertile
  • Matched for age with Silver Russel syndrome (SRS) patients

Exclusion criteria

  • Adults under guardianship
  • Patients without national health insurance cover
  • Patients with psychomotor development diseases or pulmonary, cardiac, renal or metabolic diseases (including type 1 and 2 diabetes before the pregnancy), inflammatory and systemic diseases, hypertension, neurological diseases, chronic hepatitis B or C, infection with human immunodeficiency virus (HIV).

Treatment and study plan

pyrosequencing

Genetic

Methylome

Genetic

Primary outcomes

  1. Analysis of levels of methylation of deoxyribonucleic acid (DNA) measured by cloning/ sequencing and/or pyrosequencing for genes susceptible to imprinting (GSI)

    Time frame: Through the study completion up to 1 month

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: REPAR

Important dates

Study start
2015
Primary completion
2015
First posted
Aug 9, 2016
Registry last updated
Aug 9, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.