Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Identifai Genetics Analytical Validation Study

The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.

Study Overview

• Status: Recruiting
• Conditions: Genetics; Prenatal Diagnosis
• Intervention / Treatment: Other: Non Invasive Prenatal Test via blood sample

Detailed Description

Amniocentesis (drawing fluid from inside the womb) and chorionic villus sampling (removing a very small amount of the developing placenta) are the current "gold standard" for diagnosis of genetic abnormalities in the developing fetus (unborn child) during the pregnancy. However, these procedures have small risks of miscarriage and are normally used for women with known risk factors for a genetic condition in the fetus. Finding a method to detect genetic changes in a fetus without performing a procedure associated with a risk for miscarriage may be helpful for the clinical care of pregnant patients in collaboration with their providers in the future.

It has been demonstrated that cell-free fetal (cff) DNA is present in the mother's bloodstream. This is already used to detect common conditions like Down Syndrome, a condition that all pregnancies are at risk for. The existing cffDNA tests are not currently able to detect if a fetus is a carrier or affected with the conditions parents are commonly screened for using carrier screening and other genomic tests. The study aim to test the use of new genetic techniques on cffDNA that can find if a fetus is affected with condition that one or both parents are carriers for. The study also aim to investigate if these new tools can detect other spontaneous and inherited genetic changes. This will make prenatal detection possible of many more genetic disorders than can currently be done by drawing blood from the mother. The Maternal and Paternal blood samples will be also used for the development of new methods to detect genetic abnormalities in the developing fetus.

• Study Type: Interventional
• Enrollment (Estimated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Gilad Magnazi, MEng, MBA; Phone Number: +972547627177; Email: giladm@identifai-genetics.com
• Study Contact Backup: Name: Noa Liscovitz Brauer, PhD; Phone Number: +972507945524; Email: noal@identifai-genetics.com

Study Locations

• United States
  • New York
    • New York, New York, United States, 10027
      • Recruiting
      • Columbia University Irving Medical Center
      • Contact: Ronald J Loosen; Phone Number: 646-596-0866; Email: rla2156@cumc.columbia.edu
      • Principal Investigator: Ronald J. Wapner, Professor
      • Sub-Investigator: Jessica Giordano, MS, CGC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

General:

• Parental age≥18
• Singleton pregnancy
• Willingness and ability to provide informed consent to participate in study
• Patient having a diagnostic procedure (CVS, amniocentesis, cordocentesis) or delivering on site (obtain cord blood/cord segment)

Main Study:

• Gestational age: 10-23 weeks
• Parents are both carriers of different known pathogenic SNVs or short indels (<=5bp) in the same gene (compound heterozygosity).

Substudy:

• Gestational age ≥10 weeks
• Either parent or both carry a known structural variant and/or other chromosomal anomalies AND/OR Ultrasound highly suggestive of an underlying genetic aberration (e.g., cardiac outlet and 22q)

Exclusion Criteria:

• Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)

Study Plan

How is the study designed?

Design Details

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

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection	Other: Non Invasive Prenatal Test via blood sample; Maternal - blood draw, Paternal - blood draw/Saliva sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Analytic Validity - Sensitivity	The ability to correctly detect pregnancies that are positive for the suspected genetic condition arising from a compound heterozygosity scenario. It is calculated by assessing the proportion of true positive results among all pregnancies that actually have the condition. This calculation involves dividing the number of true positive cases by the total number of cases that truly have the condition (sum of true positive and false negative cases), thus providing a measure of the test's accuracy in correctly identifying the condition when it is actually present.	10 weeks
Analytic Validity - Specificity	The ability to accurately identify pregnancies that do not have the suspected genetic aberration arising from a compound heterozygosity scenario. It is calculated by determining the proportion of true negative results among all cases that are actually free from the condition. This involves dividing the number of true negative cases by the sum of true negative and false positive cases, providing a measure of the test's accuracy in correctly ruling out the condition in unaffected pregnancies.	10 weeks

Collaborators and Investigators

• Sponsor: Identifai Genetics

Study record dates

Study Major Dates

• Study Start (Actual): December 5, 2023
• Primary Completion (Estimated): September 1, 2025
• Study Completion (Estimated): December 1, 2025

Study Registration Dates

• First Submitted: December 20, 2023
• First Submitted That Met QC Criteria: January 31, 2024
• First Posted (Actual): February 2, 2024

Study Record Updates

• Last Update Posted (Actual): February 2, 2024
• Last Update Submitted That Met QC Criteria: January 31, 2024
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Keywords: NIPS; NIPT
• Other Study ID Numbers: CL001

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