Genomic Predictors of Recurrent Pregnancy Loss
- Conditions
- Recurrent Pregnancy Loss
- Registration Number
- NCT05444283
- Lead Sponsor
- Yale University
- Brief Summary
The overall goals of this proposal are to determine the genetic architecture of recurrent pregnancy loss (RPL) and to discover genomic predictors of RPL.
- Detailed Description
The following specific aims are proposed:
Aim 1: Collect clinically well-characterized samples from trios (product of conception (POC), biological mother, and biological father) with unexplained RPL. Specifically, a cohort of 1,000 trios that are rigorously-phenotyped will be recruited, and for which couples' RPL is not attributable to known causes. The POC and parental DNA samples will be collected. If it is necessary for the purpose of determining the pathogenicity of sequence variants from the trio, collecting DNA samples from other family members after consent will also be considered. The study team may also request DNA or POC tissues from a prior pregnancy loss(es) if available.
Aim 2: A whole genome sequencing (WGS) at the Yale Center for Genome Analysis (YCGA) will be performed and bioinformatic analyses to identify pathogenic variants in included trios will performed as well. Pathogenic variants will be comprehensively defined and fully annotated variant maps in all included trios to provide the substrate for subsequent novel gene discovery, and ultimately, the development of clinical diagnostic tests will be generated.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1000
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Determine genetic etiology for Recurrent Pregnancy Loss 5 years The WGS tool will be used to analyze the POC sample and parental blood samples to determine the clinical reportable genetic cause for RPL
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (11)
Northwestern University
🇺🇸Chicago, Illinois, United States
Gaelle Massoud
🇺🇸Baltimore, Maryland, United States
University of Colorado
🇺🇸Aurora, Colorado, United States
Pennsylvania State University
🇺🇸Hershey, Pennsylvania, United States
University of Oklahoma
🇺🇸Oklahoma City, Oklahoma, United States
University of Chicago
🇺🇸Chicago, Illinois, United States
Yale University
🇺🇸New Haven, Connecticut, United States
Wayne State University
🇺🇸Detroit, Michigan, United States
Columbia University
🇺🇸New York, New York, United States
University of Texas at San Antonio
🇺🇸San Antonio, Texas, United States
University of Texas at Austin
🇺🇸Austin, Texas, United States