Embryo Health Study (EHS)

The Embryo Health Study: Prospective Longitudinal Analysis of PGT-P

This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders. Patients undergoing IVF and genetic testing on their embryos for aneuploidies will be given the option to obtain information of their embryos' polygenic disease risk after receiving genetic counseling.

Study Overview

• Status: Active, not recruiting
• Conditions: Infertility; Hereditary Diseases
• Intervention / Treatment: Other: Preimplantation Genetic Testing

Detailed Description

Patients planning to use PGT-A and who meet the inclusion criteria will be offered participation by their IVF physician prior to initiating cycle stimulation. Eligible and interested patients will be contacted, counseled and consented for participation in the study by a Genetic Counselor at Genomic Prediction Clinical Laboratory. This will include genetic counseling to address the benefits and limitations of PGT-A and PGT-P, the family history of diseases currently tested under PGT-P, what diseases they may be interested in testing, the process of obtaining saliva samples, and the information provided by PGT-P results.

A total of 500 patients will complete the study and may be recruited from any IVF clinic in the United States. After being enrolled in the study, patients will have two options. One option is to receive PGT-A results first and then decide if they wish to receive the PGT-P results. A second option is to receive a single comprehensive report. All patients will receive a report indicating the predicted karyotype of each embryo (PGT-A) and, according to which option they elected, may also receive a report on any or all of the following elected diseases: Type 1 Diabetes, Type 2 Diabetes, Coronary Artery Disease, Heart Attack, Hypercholesterolemia, Hypertension, Testicular Cancer, Prostate Cancer, Malignant Melanoma, Breast Cancer, Basal Cell Carcinoma. Furthermore, a genetic ancestry test will be performed on each submitted saliva sample to determine potential PGT-P performance and which disease predictors can be computed based on the patients ethnic background.

• Study Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

• Study Contact: Name: Talia Metzgar, RN; Phone Number: (973) 529-4223; Email: [email protected]
• Study Contact Backup: Name: Bhavini Rana; Phone Number: (973) 529-4223; Email: [email protected]

Study Locations

• United States
  • New Jersey
    • North Brunswick, New Jersey, United States, 08902
      • Genomic Prediction Clinical Laboratory

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

Patients undergoing IVF with preimplantation genetic testing for aneuploidies (PGT-A).

Description

Inclusion Criteria:

• All couples of Caucasian or East Asian ancestry above the age of 18 who elect to have PGT-A as part of their IVF treatment cycle.

Exclusion Criteria:

• Any case where biological parental DNA is unavailable.
• Any case involving PGT-M or PGT-SR.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patients' interest in Preimplantation Genetic Testing for Polygenic Disorders	Patients' interest in obtaining information on their embryos' polygenic disease risk will be measured in a scale of 1-5. 1 being "Not interested" and 5 "highly interested".	2 years

Collaborators and Investigators

• Sponsor: Genomic Prediction Inc.

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2020
• Primary Completion (Anticipated): November 1, 2023
• Study Completion (Anticipated): December 1, 2023

Study Registration Dates

• First Submitted: August 24, 2020
• First Submitted That Met QC Criteria: August 24, 2020
• First Posted (Actual): August 27, 2020

Study Record Updates

• Last Update Posted (Actual): May 19, 2023
• Last Update Submitted That Met QC Criteria: May 17, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn
• Other Study ID Numbers: Genomic Prediction Inc 616

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: Data will be available after publication of the study main findings, either as supplemental material or in a public data repository.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No