Ignite Creation Date:
2024-05-06 @ 1:51 PM
Last Modification Date:
2024-10-26 @ 1:21 PM
Study NCT ID:
NCT04141618
Status:
COMPLETED
Last Update Posted:
2022-10-04
First Post:
2014-04-07
Brief Title:
The Role of NLRP Gene Family NLRP114 in Recurrent Miscarriage and Infertility
Sponsor:
National Cheng-Kung University Hospital
Organization:
National Cheng-Kung University Hospital
Study Overview
Official Title:
Dr Pao-Lin Kuo Department of Obstetrics and Gynecology
Status:
COMPLETED
Status Verified Date:
2019-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 RMHM 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 variantsmutations 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
Detailed Description:
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 RMHM we also found some novel mutationsgenetic 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 RMHM A recent report showed chaotic cleavage abnormalities of embryos in patients with NLRP7 variants
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None