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

NCT04141618 | Completed

• 1 other identifier: BR-100-006
• Study Type: observational
• Target: 143
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Miscarriage, Recurrent; Infertility

Keywords

recurrent miscarriage; infertility

Outcome Measures

Primary Outcomes (1)

• pregnancy outcome

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

  1 month at the end of pregnancy

Secondary Outcomes (1)

• spontaneous abortion

  abortion before 12 weeks of gestation

Other Outcomes (1)

• intrauterine fetal death

  fetal death after 12 weeks of gestation

Eligibility Criteria

• Age: 25 Years - 45 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Assuming that there are 300 cases and 300 controls enrolled, the underlying disease model is recessive, the disease prevalence is approximately 3% and the disease allele frequency is about 5%, this study has more than 80% power for detecting the SNP with an allele frequency greater than 10% and an allelic odds ratio greater than 1.4. We assumed that the SNP is either the causal gene or in LD with the causal allele and power was calculated without multiple testing corrections.

You may qualify if:

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

You may not qualify if:

• Women who do not have recurrent miscarriage and infertility problems.

Sponsors & Collaborators

• National Cheng-Kung University Hospital: lead

Study Sites (1)

National Cheng-Kung University Hospital

Tainan, 70428, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA extracted from peripheral blood.

MeSH Terms

Conditions

Abortion, Habitual; Infertility

Condition Hierarchy (Ancestors)

Abortion, Spontaneous; Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases

Study Officials

• Pao-Lin Kuo, MD

  Department of Obstetrics and Gynecology, National Cheng Kung University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 7, 2014
• First Posted: October 28, 2019
• Study Start: August 1, 2011
• Primary Completion: July 1, 2015
• Study Completion: July 31, 2015
• Last Updated: October 4, 2022

Record last verified: 2019-10

Locations

TW (1)