Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Genetics Clinical Trial

Official title:

Identifai Genetics Analytical Validation Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06239077
• Other study ID #: CL001
• Status: Recruiting
• Phase: N/A
• Start date: December 5, 2023
• Est. completion date: December 2025

Study information

• Verified date: December 2023
• Source: Identifai Genetics
• Contact: Gilad Magnazi, MEng, MBA
• Phone: +972547627177
• Email: giladm[@]identifai-genetics.com
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 2025
• Est. primary completion date: September 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Genetics
• Prenatal Diagnosis

Intervention

Other:
• Non Invasive Prenatal Test via blood sample
Maternal - blood draw, Paternal - blood draw/Saliva sample

Locations

Country	Name	City	State
United States	Columbia University Irving Medical Center	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
Identifai Genetics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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