Molecular studies on reduced ovarian reserve and embryo competence in BRCA1/2 mutation carriers

Recruiting

• Conditions: subfertility; hereditary breast cancer; 10038608; 10006291; 10006232

• Registration Number: NL-OMON44516
• Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 104

Inclusion Criteria

-IVF/PGD treatment for a BRCA1/2-mutation, both male and female mutation carriers (Control group A and Test group, respectively)
-IVF/PGD treatment because the male partner has an autosomal dominant hereditary disorder (such as but not restricted to Huntingtons disease or Marfan syndrome) or both male/female partners carry a autosomal recessive hereditary disorder (such as but not restricted to cystic fibrosis or spinal muscular atrophy )(Control group B)

Exclusion Criteria

- Known hereditary disease other than due to BRCA1/2-mutations in the female
- Known genetic abnormalities in female leading to diminished ovarian reserve: carriers of fragile X syndrome or abnormalities of the X-chromosome
- Hereditary disease in male known to affect embryo development
- Known history of a malignancy in the female
- Endocrine or metabolic abnormalities (pituitary, adrenal, pancreas, liver or renal)
- History of cancer treatment in the female or male
- Non-Dutch couples, not able to understand the patient information to give informed consent properly

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Morphology, the presence of apoptosis, DNA damage and chromosomal aberrations<br /><br>in the (im)mature oocytes and embryos of BRCA1/2-mutation carriers compared to<br /><br>oocytes and embryos of controls.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>NA</p><br>