Actively Recruiting
Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks
Led by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Updated on 2025-05-02
208
Participants Needed
2
Research Sites
136 weeks
Total Duration
On this page
Sponsors
F
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Lead Sponsor
I
Istituto Auxologico Italiano
Collaborating Sponsor
AI-Summary
What this Trial Is About
Pathogenic variants in subcortical maternal complex (SCMC) have been identified not only in mothers of Beckwith-Wiedemann syndrome (BWS) babies but also in women with reproductive disturbances such as failed pregnancy attempts and recurrent pregnancy loss. Based on the higher incidence of BWS in children born from Assisted Reproductive Technology (ART), this project aims to investigate incidence and molecular mechanism of pathogenic variants of SCMC in women with reproductive disorders. Study objectives will be (i) assess the incidence of these variants as a cause of differences in reproductive outcomes in the infertile female population and mothers of children with BWS; (ii) identify methylation changes in women with reproductive problems including those with offspring affected by BWS; (iii) determine the molecular causes underlying female infertility and imprinting disorder associated with damaging SCMC gene variants by employing a mouse model.
CONDITIONS
Official Title
Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Healthy women with a child affected by Beckwith-Wiedemann syndrome and specific reproductive history
- Women under 35 undergoing assisted reproductive technology for infertility, defined as failure to conceive after 12 months of regular unprotected sex and no live birth after three cycles or transfer of at least 6 blastocysts
- Women under 35 with recurrent pregnancy loss, defined as losing two or more pregnancies before 24 weeks gestation
You will not qualify if you...
- Presence of conventional or molecular karyotype alterations
- Known causes of decreased fertility or recurrent abortions such as ovarian disorders (e.g., polycystic ovarian syndrome), endocrine system imbalances, autoimmune conditions, male infertility, uterine or tubal dysfunctions or malformations
- Thrombophilic conditions or untreated thyroid dysfunctions
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy, 20122
Actively Recruiting
2
Istituto Auxologico Italiano
Milan, Italy, 20145
Actively Recruiting
Research Team
E
Edgardo Somigliana, PhD
CONTACT
M
Marco Reschini, MSc
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
BASIC_SCIENCE
Number of Arms
3
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