Genomic Predictors of Recurrent Pregnancy Loss

Last updated: December 19, 2024
Sponsor: Yale University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Recurrent Pregnancy Loss

Treatment

N/A

Clinical Study ID

NCT05444283
2000029802
1R01HD105267-01
  • Ages 18-50
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

  1. Women with loss of a current singleton pregnancy at < 20 0/7 weeks gestation (documented by ultrasonography or histopathological examination) and one or more prior pregnancy losses.

  2. Euploid current pregnancy by karyotype or microarray (a limited number of aneuploid losses will be included as part of the pilot)

  3. No history of parental karyotype abnormalities

  4. No history of antiphospholipid antibody syndrome

  5. No evidence of uncontrolled diabetes

  6. No evidence of uncontrolled thyroid disease

  7. No history of autoimmune disease (SLE, RA)

  8. No history of uterine anomalies

  9. No history of cervical insufficiency

Study Design

Total Participants: 1000
Study Start date:
September 01, 2021
Estimated Completion Date:
December 31, 2026

Study 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.

Connect with a study center

  • University of Colorado

    Aurora, Colorado 80045
    United States

    Active - Recruiting

  • Yale University

    New Haven, Connecticut 06511
    United States

    Active - Recruiting

  • Northwestern University

    Chicago, Illinois 60611
    United States

    Active - Recruiting

  • University of Chicago

    Chicago, Illinois 60611
    United States

    Site Not Available

  • Gaelle Massoud

    Baltimore, Maryland 21205
    United States

    Active - Recruiting

  • Wayne State University

    Detroit, Michigan 48201
    United States

    Active - Recruiting

  • Columbia University

    New York, New York 10032
    United States

    Active - Recruiting

  • University of Oklahoma

    Oklahoma City, Oklahoma 73104
    United States

    Active - Recruiting

  • Pennsylvania State University

    Hershey, Pennsylvania 17033
    United States

    Active - Recruiting

  • University of Texas at Austin

    Austin, Texas 78712
    United States

    Active - Recruiting

  • University of Texas at San Antonio

    San Antonio, Texas 78299
    United States

    Active - Recruiting

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