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

Medisch Universitair Ziekenhuis Maastricht0 个研究点目标入组 104 人开始时间: 待定最近更新: 2024年4月23日

适应症

试验速览

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•-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)

•- 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

发起方

Medisch Universitair Ziekenhuis Maastricht