Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

NCT06239077 | Unknown

• 1 other identifier: CL001
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Prenatal Diagnosis; Genetics

Keywords

NIPS; NIPT

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (1)

Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection

EXPERIMENTAL

Other: Non Invasive Prenatal Test via blood sample

Interventions

Non Invasive Prenatal Test via blood sample OTHER

Maternal - blood draw, Paternal - blood draw/Saliva sample

Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: Pregnant women and father are recruited
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Identifai Genetics: lead

Study Sites (1)

Columbia University Irving Medical Center

New York, New York, 10027, United States

RECRUITING

Central Study Contacts

Gilad Magnazi, MEng, MBA

CONTACT

+972547627177; giladm@identifai-genetics.com

Noa Liscovitz Brauer, PhD

CONTACT

+972507945524; noal@identifai-genetics.com

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: Patient information is confidential and shared exclusively with the treating physician
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 20, 2023
• First Posted: February 2, 2024
• Study Start: December 5, 2023
• Primary Completion: September 1, 2025
• Study Completion: December 1, 2025
• Last Updated: February 2, 2024

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)