NCT02859688|Completed
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
REPAR
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REPAR
Sponsor study identifier
observational
7
1 country
1
Study Start
May 2015
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
July 2015
Actual (reported)Study Completion
Not reported
Date not reportedLike 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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
Not reported
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
May 2015
Date type not reportedThis date has not been verified as actual or estimated.
July 2015
Actual (reported)August 2, 2016
Actual (reported)August 9, 2016
Actual (reported)Analysis of levels of methylation of deoxyribonucleic acid (DNA) measured by cloning/ sequencing and/or pyrosequencing for genes susceptible to imprinting (GSI)
Through the study completion up to 1 month
1 patient SRS, the father of the patient SRS and 5 control patients : healthy men, age-matched
CHU Dijon Bourgogne
Dijon, 21079, France
blood, sperm, saliva, skin biopsy
7 participants (actual enrollment reported by the registry).
First Submitted
August 2, 2016
First Posted
August 9, 2016
Study Start
May 2015
Date type not reportedThis date has not been verified as actual or estimated.
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Primary Completion
July 2015
Actual (reported)Last Updated
August 9, 2016
Record last verified: 2016-07
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Source: ClinicalTrials.gov.
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