Recruiting

Genetic Architecture

Sponsor:

Yale University

Code:

NCT05444283

Conditions

Recurrent Pregnancy Loss

Eligibility Criteria

Sex: All

Age: 18 - 50

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT05444283

Start date

Sep 1, 2021

Status verified date

May, 2026

Completion date

Dec, 2026

Anticipated

Primary completion date

Dec, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 50

Healthy Volunteers: Accepted

Cohort A - Fetal Intolerome Cohort

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Inclusion Criteria:

\- Women with a history of three or more pregnancy losses of unknown cause, with or without a liveborn child

Exclusion Criteria:

\- Known etiology for pregnancy loss

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Determine genetic etiology for Recurrent Pregnancy Loss [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Yong-Hui Jiang, MD, PhD

2037852429yong-hui.jiang@yale.edu

Heping Zhang, PhD

12037855185heping.zhang@yale.edu

Locations

University of Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Asma Giornazi, MS

720-276-8941asma.giornazi@ucdenver.edu

Principal Investigator:

Nanette Santoro, MD

Yale University

Recruiting

New Haven, Connecticut, United States, 06511

Contacts

Yong-Hui Jiang, MD, PhD

203-785-2429yong-hui.jiang@yale.edu

Mar T Giner-Calabuig, PhD

203-737-2212mar.giner-calabuig@yale.edu

Principal Investigator:

Yong-Hui Jiang, MD, PhD

Northwestern University

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Riley Bonaccorsi

312-694-6678riley.bonaccorsi@nm.org

Principal Investigator:

Emily Jungheim, MD

Johns Hopkins University

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Samya El Sayed, MD

443-473-2674selsaye4@jh.edu

Principal Investigator:

James Segars, MD

Wayne State University

Recruiting

Detroit, Michigan, United States, 48201

Contacts

Michelle Yoscovits

313-577-8016mbrossoi@med.wayne.edu

Principal Investigator:

Stephen Krawetz, PhD

Columbia University

Recruiting

New York, New York, United States, 10032

Contacts

Jessica Giordano, CGC

516-521-5604jlg2197@cumc.columbia.edu

Alexandra Tinfow, CGC

917-838-2196at3452@cumc.columbia.edu

Principal Investigator:

Uma Reddy, MD, MPH

Pennsylvania State University

Recruiting

Hershey, Pennsylvania, United States, 17033

Contacts

Robinn Moyer

717-531-6272Rmoyer3@pennstatehealth.psu.ed

Principal Investigator:

Sarah Horvath, MD

University of Texas at Austin

Recruiting

Austin, Texas, United States, 78712

Contacts

Elizabeth Davis, RN

512-495-2103elizabethrose.davis@austin.utexas.edu

Brooke Lasher

404-441-3186brooke.lasher@austin.utexas.edu

Principal Investigator:

Winifred Mak, MD, PhD

University of Texas at San Antonio

Recruiting

San Antonio, Texas, United States, 78299

Contacts

Susie Reyes, RN

210-450-5384reyessr@uthscsa.edu

Principal Investigator:

Winifred Mak, MD, PhD

More Information

Sponsor

Yale University

Last update posted

May 22, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Yale University on 2026-05-22.