Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
NCT ID: NCT02859688
Last Updated: 2016-08-09
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
7 participants
OBSERVATIONAL
2015-05-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
NCT06475651
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02862808
Epigenetics in the Aging Process
NCT00242255
Inherited Reproductive Disorders
NCT01500447
Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders
NCT05214742
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
FAMILY_BASED
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
SRS patient
pyrosequencing
Methylome
father SRS patient
pyrosequencing
Methylome
control patient
pyrosequencing
Methylome
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
pyrosequencing
Methylome
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Patients over 18 years old
* Fertile
* Matched for age with Silver Russel syndrome (SRS) patients
Exclusion Criteria
* 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).
18 Years
MALE
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Centre Hospitalier Universitaire Dijon
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
CHU Dijon Bourgogne
Dijon, , France
Countries
Review the countries where the study has at least one active or historical site.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
BRUNO AOI 2014
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.