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

August 4, 2016 updated by: Centre Hospitalier Universitaire Dijon

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

7

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Dijon, France, 21079
        • Chu Dijon Bourgogne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

1 patient SRS, the father of the patient SRS and 5 control patients : healthy men, age-matched

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
SRS patient
Genetic: pyrosequencing
Genetic: Methylome
father SRS patient
Genetic: pyrosequencing
Genetic: Methylome
control patient
Genetic: pyrosequencing
Genetic: Methylome

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
Through the study completion up to 1 month

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2015

Primary Completion (ACTUAL)

July 1, 2015

Study Registration Dates

First Submitted

August 2, 2016

First Submitted That Met QC Criteria

August 4, 2016

First Posted (ESTIMATE)

August 9, 2016

Study Record Updates

Last Update Posted (ESTIMATE)

August 9, 2016

Last Update Submitted That Met QC Criteria

August 4, 2016

Last Verified

July 1, 2016

More Information

Terms related to this study

Other Study ID Numbers

  • BRUNO AOI 2014

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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