Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2021-09-01
2026-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
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
18 Years
50 Years
ALL
Yes
Sponsors
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Johns Hopkins University
OTHER
University of Texas at Austin
OTHER
Penn State University
OTHER
Northwestern University
OTHER
The University of Texas Health Science Center at San Antonio
OTHER
Wayne State University
OTHER
Columbia University
OTHER
University of Colorado, Denver
OTHER
University of Oklahoma
OTHER
University of Chicago
OTHER
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Yale University
OTHER
Responsible Party
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Locations
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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
University of Texas at San Antonio
San Antonio, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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Katherine Khun, MS
Role: primary
Yong-Hui Jiang, MD, PhD
Role: primary
Dylan T Ochoa, MPH
Role: backup
Jessica Almgren-Bell
Role: primary
Gaelle Massoud, MD
Role: primary
Michelle Yoscovits
Role: primary
Jessica Giordano, CGC
Role: primary
Alexandra Tinfow, CGC
Role: backup
Michelle Starkey-Scruggs, RN
Role: primary
Ashley Moriarty, RN
Role: backup
Robinn Moyer
Role: primary
Elizabeth Davis, RN
Role: primary
Brooke Lasher
Role: backup
Susie Reyes, RN
Role: primary
Other Identifiers
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2000029802
Identifier Type: -
Identifier Source: org_study_id