Fetal Genome Profiling Via Trophoblast Cells

July 31, 2023 updated by: Weill Medical College of Cornell University

Fetal Genome Profiling After Non-Invasive Isolation of Trophoblast Cells

The objective of this study is to utilize trophoblast cells accumulating in the endocervical canal at the beginning of pregnancy for non-invasive prenatal testing. If we are able to validate that trophoblast cells obtained at an early gestational age can be reliably used for prenatal testing, there is great potential to improve early pregnancy management and counseling options for potential parents. The target population will be all women between the age of 18-45 undergoing care at the Center for Reproductive Medicine (CRM) in order to achieve a pregnancy.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Terminated

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

The primary purpose of the study is to validate trophoblast retrieval and isolation from the cervix (TRIC) as a means of reliable non invasive prenatal genetic diagnosis (for both chromosomal abnormalities, as well as single gene defects).

The study population will be recruited from women, age 18 to 45, presenting to the Center for Reproductive Medicine (CRM) for medical care with the desire to become pregnant. Patients that achieve pregnancy will be invited by a physician to participate in the study. If prospective subjects agree to participate, they will meet with a co-investigator to go through the informed consent process.

Subjects will undergo a one-time non-invasive collection of trophoblast cells (trophoblast retrieval and isolation from the cervix, TRIC) at approximately 5-6 weeks of pregnancy as the experimental procedure for the study. TRIC is performed with ThinPrep kits using a cytobrush, the same method of Pap smear collection which is a routine part of prenatal care. The fetal trophoblast cells will then be isolated using immunomagnetic isolation. Once isolated, DNA fragmentation, fluorescent in situ hybridization (FISH), and single-cell PCR methods will be utilized to analyze the fetal genome at single nucleotide resolution. Any abnormal results identified by TRIC will be communicated to the subjects' by their physician in the office who will counsel them on the potential meaning of the results and recommend follow up testing to be ordered by their obstetrician to confirm results.

The cellular analysis from TRIC will then be compared to results obtained from CVS, amniocentesis, preimplantation genetic screening (PGS) and/or preimplantation genetic diagnosis (PGD) of the transferred embryo(s), or cytogenetic testing of fetal tissue in the event of miscarriage or pregnancy termination for validation. In the event that a patient does not undergo any of the aforementioned testing, TRIC results will be compared to birth outcomes.

Subjects will be followed via medical records through the final outcome of the pregnancy, whether termination of pregnancy, miscarriage, or live birth. If the pregnancy results in termination of pregnancy or miscarriage, cytogenetic testing of the fetus will be completed as standard care with the results compared to those obtained through TRIC testing. If the pregnancy results in live birth, basic neonatal information will be obtained via medical records, specifically whether the neonate is diagnosed with a disorder that can be identified through single gene testing (see attached table).

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
1

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10021
        • Weill Cornell Medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years to 45 years (Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Women 18 to 45 who achieve a pregnancy during study time period.
  • If pregnancy result in miscarriage, cytogenetic testing must be completed on the product of conception.

Exclusion Criteria:

  • Women whose cervical sample collection containing inadequate number of trophoblast cells for analysis.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Other: Fetal Genome Profiling
Trophoblast cells will be collected from the cervix approximately 5-6 weeks once pregnancy is achieved.
Diagnostic test: Fetal Genome Profiling.
Once pregnancy is achieved, patients will undergo non-invasive collection of trophoblast cells (trophoblast retrieval and isolation from the cervix, TRIC) at an early gestational age, approximately 5-6 weeks. The patient will also be screened with blood work for carrier status for genetic conditions.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Occurrence of chromosomal anomalies as detected via fetal genome analysis of trophoblast cells
Time Frame: 6 weeks post pregnancy
Trophoblast cells isolated from the cervix will be used to detect chromosomal anomalies occurrences as a means of non-invasive prenatal screening.
6 weeks post pregnancy

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Occurrence of chromosomal anomalies detected via trophoblast cell analysis as compared to occurrence of chromosomal anomalies detected via preimplantation genetic testing (PGT), chorionic villi sampling (CVS), amniocentesis, or cytogenetic results.
Time Frame: 16 weeks post pregnancy
Occurrence of chromosomal anomalies detected via trophoblast cells analysis will be compared to the occurrence of chromosomal anomalies detected via either PGT, CVS, amniocentesis, or cytogenetic which ever is available for validation.
16 weeks post pregnancy

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Weill Medical College of Cornell University

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Kangpu Xu, PhD, DVM, Weill Medical College of Cornell University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
July 2, 2020

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
February 14, 2021

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
February 2, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 9, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 5, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
February 6, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
August 3, 2023

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 31, 2023

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 1703018076

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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