Epimutation Clinical Trial
— REPAROfficial title:
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
| NCT number | NCT02859688 |
| Other study ID # | BRUNO AOI 2014 |
| Secondary ID | |
| Status | Completed |
| Phase | N/A |
| First received | August 2, 2016 |
| Last updated | August 4, 2016 |
| Start date | May 2015 |
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.
| Status | Completed |
| Enrollment | 7 |
| Est. completion date | |
| Est. primary completion date | July 2015 |
| Accepts healthy volunteers | No |
| Gender | Male |
| Age group | 18 Years and older |
| Eligibility |
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). |
Observational Model: Family-Based, Time Perspective: Prospective
| Country | Name | City | State |
|---|---|---|---|
| France | CHU Dijon Bourgogne | Dijon |
| Lead Sponsor | Collaborator |
|---|---|
| Centre Hospitalier Universitaire Dijon |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 | No |