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Completed

NCT Number: NCT04141618

The Role of NLRP Gene Family (NLRP1~14) in Recurrent Miscarriage and Infertility

Development of mole was not associated with segregation of mutated NLRP7 allele in the haploid oocyte. We hypothesize NLRP7 is a maternal factor involved in regulating early embryo development or embryo-uterine interaction. In the proposed study, we seek to identify novel genetic variants and mutations of NLRP7 in women who experienced RM/HM. Genetic association study and haplotype analysis are performed to test assocation between NLRP7 gene and female reproductive performance. Immunohistochemical staining, RT-PCR, and Western blot analysis are used to investigate expression pattern of NLRP7 in endometrium and placenta. Two approaches are used to characterize functional significance of genetic variants/mutations. The first approach will be based on mutagenesis and the second approach will be based on induced pluripotent stem cells (iPSCs). Results obtained from the proposed study will provide novel insight into mechanism of embryo development and implantation.

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Key information

Conditions

Miscarriage, Recurrent Abortion, Habitual Abortion, Spontaneous Female Urogenital Diseases and Pregnancy Complications Genital Diseases Infertility Pregnancy Complications Urogenital Diseases

Age range

25 year–45 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Cheng-Kung University Hospital

Tainan, 70428, Taiwan

About this study

Recurrent miscarriage (RM), defined as at least two consecutive fetal death or spontaneous abortions before the 20th week gestational age, occurred in about 1% to 5% couples. The causes of RM include uterine factors, endocrine factors, thromobophilic factors, immunologic factors and genetic factors. The hydatidiform mole (HM) can be divided into two separate syndromes: complete mole (CHM) and partial mole (PHM). In the West, CHMs occur in approximately 1 in every 1500 pregnancies. The incidence is higher in Latin America, Southeast Asia and the Middle East. The cause of RM and HM are not known for the vast majority of cases. The NLRP (Nucleotide-binding oligomerization domain, Leucine rich Repeat and Pyrin domain containing) family, also referred to as NALP family, is well known for its roles in apoptosis and inflammation. Expression studies showed that twelve of the fourteen members of NLRP family express differentially in human oocytes and preimplantation embryonic cells, especially NLRP7, indicating important role of NLRP family in female reproduction. Since 2006, mutations of NLRP7 have been found in women with repeated occurrence of molar pregnancy, repeated stillbirth or early spontaneous abortion. In women who experienced RM/HM, we also found some novel mutations/genetic variants of NLRP7. Taken together, these finding suggest RM and HM may share the same genetic etiology in some cases. In addition, NLRP7 is a strong candidate gene for RM/HM. A recent report showed chaotic cleavage abnormalities of embryos in patients with NLRP7 variants.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Recurrent abortions and infertility treatments but combined with repetitive (more than two consecutive) implantation failure couples, rather than general infertility couples.

Exclusion criteria

Women who do not have recurrent miscarriage and infertility problems.

Treatment and study plan

Primary outcomes

  1. pregnancy outcome

    Time frame: 1 month at the end of pregnancy

    Pregnancy and delivery of a normal baby is defined as normal outcome

Secondary outcomes

  1. spontaneous abortion

    Time frame: abortion before 12 weeks of gestation

    fail to maintain pregnancy beyond 12 weeks

Other outcomes

  1. intrauterine fetal death

    Time frame: fetal death after 12 weeks of gestation

    pregnancy beyond 12 weeks followed by death of the fetus

Sponsors and collaborators

Lead sponsor

National Cheng-Kung University Hospital

Other

Registry information

Official study title

Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)

Important dates

Study start
2011
Primary completion
2015
Study completion
2015
First posted
Oct 28, 2019
Registry last updated
Oct 4, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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