Genomic Predictors of Recurrent Pregnancy Loss

NCT05444283 | Recruiting

• 2 other identifiers: 20000298021R01HD105267-01
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 10

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.

Conditions

Recurrent Pregnancy Loss

Outcome Measures

Primary Outcomes (1)

• Determine genetic etiology for Recurrent Pregnancy Loss

  The WGS tool will be used to analyze the POC sample and parental blood samples to determine the clinical reportable genetic cause for RPL

  5 years

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Couples who have had two or more previous pregnancy losses and have undiagnosed cause of recurrent pregnancy loss.

You may qualify if:

• Women with loss of a current singleton pregnancy at \< 20 0/7 weeks gestation, documented by ultrasonography or histopathological examination
• History of one or more prior pregnancy losses
• Euploid current pregnancy confirmed by karyotype, microarray, or STORK (Short-read Transpore Rapid Karyotyping) sequencing Note: A limited number of aneuploid losses will be included as part of the pilot phase

You may not qualify if:

• History of parental karyotype abnormalities
• History of antiphospholipid antibody syndrome
• Evidence of uncontrolled diabetes
• Evidence of uncontrolled thyroid disease
• History of autoimmune disease related to pregnancy loss (e.g., systemic lupus erythematosus, rheumatoid arthritis)
• History of uterine anomalies
• History of cervical insufficiency
• Cohort B - Maternal Effect Gene Cohort
• \- Women with a history of three or more pregnancy losses of unknown cause, with or without a liveborn child
• \- Known etiology for pregnancy loss

Sponsors & Collaborators

• University of Texas at Austin: collaborator
• Penn State University: collaborator
• Northwestern University: collaborator
• The University of Texas Health Science Center at San Antonio: collaborator
• Wayne State University: collaborator
• Columbia University: collaborator
• University of Colorado, Denver: collaborator
• University of Chicago: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• University of Utah: collaborator
• Yale University: lead
• Johns Hopkins University: collaborator

Study Sites (10)

University of Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Yale University

New Haven, Connecticut, 06511, United States

RECRUITING

Northwestern University

Chicago, Illinois, 60611, United States

RECRUITING

University of Chicago

Chicago, Illinois, 60611, United States

ACTIVE NOT RECRUITING

Gaelle Massoud

Baltimore, Maryland, 21205, United States

RECRUITING

Wayne State University

Detroit, Michigan, 48201, United States

RECRUITING

Columbia University

New York, New York, 10032, United States

RECRUITING

Pennsylvania State University

Hershey, Pennsylvania, 17033, United States

RECRUITING

University of Texas at Austin

Austin, Texas, 78712, United States

RECRUITING

University of Texas at San Antonio

San Antonio, Texas, 78299, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Products of conception and blood or saliva of one or both biological parents

Central Study Contacts

Yong-Hui Jiang, MD, PhD

CONTACT

2037852429; yong-hui.jiang@yale.edu

Heping Zhang, PhD

CONTACT

12037855185; heping.zhang@yale.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2022
• First Posted: July 5, 2022
• Study Start: September 1, 2021
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: February 11, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (10)