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

Molecular studies on reduced ovarian reserve and embryo competence in BRCA1/2 mutation carriers - BRCA1/2, ovarian reserve and embryo competence (ORCA)

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON44516
Enrollment
104
Registered
2015-01-15
Start date
2015-02-25
Completion date
Unknown
Last updated
2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

hereditary breast cancer

Interventions

None listed

Sponsors

Medisch Universitair Ziekenhuis Maastricht
Lead Sponsor

Eligibility

Age
18 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

MeasureTime frame
Morphology, the presence of apoptosis, DNA damage and chromosomal aberrations in the (im)mature oocytes and embryos of BRCA1/2-mutation carriers compared to oocytes and embryos of controls.

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)