Genomic Predictors of Recurrent Pregnancy Loss

Recruiting

• 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.

Study Timeline

• Study Start: 2021-09-01
• Study First Submitted: 2022-06-29
• Study First Submitted QC: 2022-06-29
• Study First Posted: 2022-07-05
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-19
• Last Update Posted: 2024-12-27
• Primary Completion: 2026-12
• Study Completion: 2026-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

Not provided

Exclusion Criteria

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

Trial Locations

Locations (11)

University of Colorado; 🇺🇸 Aurora, Colorado, United States

Yale University; 🇺🇸 New Haven, Connecticut, United States

Northwestern University; 🇺🇸 Chicago, Illinois, United States

University of Chicago; 🇺🇸 Chicago, Illinois, United States

Gaelle Massoud; 🇺🇸 Baltimore, Maryland, United States

Wayne State University; 🇺🇸 Detroit, Michigan, United States

Columbia University; 🇺🇸 New York, New York, United States

University of Oklahoma; 🇺🇸 Oklahoma City, Oklahoma, United States

Pennsylvania State University; 🇺🇸 Hershey, Pennsylvania, United States

University of Texas at Austin; 🇺🇸 Austin, Texas, United States

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