Prenatal DiagnosisNCT06239077
Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection
A study testing Non Invasive Prenatal Test via blood sample in people with Prenatal Diagnosis and Genetics, run by Identifai Genetics at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Prenatal Diagnosis, Genetics
- What is being tested?
- Non Invasive Prenatal Test via blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Dec 2023to Dec 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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:
Show all 11Show fewer
- 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)
Who cannot join
- Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Columbia University Irving Medical Center
New York, New York, 10027
Ronald J Loosen, 646-596-0866, rla2156@cumc.columbia.edu
Ronald J. Wapner, Professor
About this study
Official title: 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.
Read the 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.
- Conditions
- Prenatal Diagnosis, Genetics
- Being tested
- Non Invasive Prenatal Test via blood sample
- Keywords
- NIPS, NIPT
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non Invasive Prenatal Test via blood sampleOther
Maternal - blood draw, Paternal - blood draw/Saliva sample
| Study group | Role | What they receive |
|---|---|---|
| Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection | Experimental | Not described Receives: Other: Non Invasive Prenatal Test via blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 10 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2024
- Study start5 Dec 2023
- Primary completionSep 2025 (estimated)
- Study completionDec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Prenatal DiagnosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Identifai Genetics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06239077
- Sponsor's protocol ID
- CL001
- Status last verified
- Dec 2023
- First submitted
- 20 Dec 2023
- Last updated
- 2 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identifai Genetics Analytical Validation Study
- ClinicalTrials.gov ID
- NCT06239077
- Acronym / sponsor ID
- CL001
- Conditions
- Prenatal Diagnosis, Genetics
- Keywords
- NIPS, NIPT
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Identifai GeneticsIndustry (pharma, biotech, devices)
- Study start
- 5 Dec 2023 (actual)
- Primary completion
- Sep 2025 (estimated)
- Study completion
- Dec 2025 (estimated)
- First posted
- 2 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection | Experimental | Other: Non Invasive Prenatal Test via blood sample |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- 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)
- Gestational age: 10-23 weeks
Key exclusion criteria (1 listed)
- Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Non Invasive Prenatal Test via blood sampleMaternal - blood draw, Paternal - blood draw/Saliva sample | Other | Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection |
Primary outcome
Analytic Validity - Sensitivity
Time frame: 10 weeks
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.
Analytic Validity - Specificity
Time frame: 10 weeks
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Feb 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Non Invasive Prenatal Test via blood sample in people with Prenatal Diagnosis and Genetics, run by Identifai Genetics at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 2 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Gilad Magnazi, MEng, MBA (+972547627177, giladm@identifai-genetics.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Analytic Validity - Sensitivity (time frame: 10 weeks). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Feb 2024.