Ignite Creation Date:
2024-05-05 @ 4:42 PM
Last Modification Date:
2024-10-26 @ 9:23 AM
Study NCT ID:
NCT00298116
Status:
COMPLETED
Last Update Posted:
2014-12-08
First Post:
2006-02-27
Brief Title:
Molecular Associations With Reproductive Failure
Sponsor:
University of Pittsburgh
Organization:
University of Pittsburgh
Study Overview
Official Title:
Molecular Associations With Reproductive Failure
Status:
COMPLETED
Status Verified Date:
2014-12
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:
The overall hypothesis to be tested is women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion
Detailed Description:
The overall hypothesis to be tested is women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion
We will investigate this hypothesis through two complimentary aims In the Background and Significance section we first present data on a 53-member pedigree segregating an X-linked recessive lethal defect that results in skewed X inactivation in the carrier females via secondary selection against those cells with the defective X chromosome active We have characterized this deletion to be a 500 kb approximate deletion in distal Xq28 Moreover the carrier females show a statistically significant increase in the frequency of spontaneous abortion as compared to non-deletion carrying relatives Secondly in the Preliminary Studies section we present data from a population based case-control study wherein highly skewed X chromosome inactivation is significantly correlated with idiopathic recurrent spontaneous abortion This protocol attempts to elucidate the mechanism underlying this association
The first specific aim is to determine if women with highly skewed X chromosome inactivation are at risk of pregnancy loss This will be accomplished through a prospective protocol analyzing X chromosome inactivation patterns in pregnant women and investigating a possible association between X chromosome inactivation and pregnancy outcome The second aim will study the nature of pregnancy loss in women with skewed X chromosome inactivation This aim will correlate maternal X inactivation patterns with abortus karyotype
We will investigate this hypothesis through two complimentary aims In the Background and Significance section we first present data on a 53-member pedigree segregating an X-linked recessive lethal defect that results in skewed X inactivation in the carrier females via secondary selection against those cells with the defective X chromosome active We have characterized this deletion to be a 500 kb approximate deletion in distal Xq28 Moreover the carrier females show a statistically significant increase in the frequency of spontaneous abortion as compared to non-deletion carrying relatives Secondly in the Preliminary Studies section we present data from a population based case-control study wherein highly skewed X chromosome inactivation is significantly correlated with idiopathic recurrent spontaneous abortion This protocol attempts to elucidate the mechanism underlying this association
The first specific aim is to determine if women with highly skewed X chromosome inactivation are at risk of pregnancy loss This will be accomplished through a prospective protocol analyzing X chromosome inactivation patterns in pregnant women and investigating a possible association between X chromosome inactivation and pregnancy outcome The second aim will study the nature of pregnancy loss in women with skewed X chromosome inactivation This aim will correlate maternal X inactivation patterns with abortus karyotype
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