Copy Number VariationsNCT04774640
Development of a NIPTT for Detecting Copy Number Variations
An observational study of Copy Number Variations, run by Sequenom, Inc. at 1 site in United States.
Trial summary
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). Read more about this study
- Who is it for?
- Ages 18 to 89 years, women only
- Conditions the study is for
- Copy Number Variations
- What is being tested?
- MaterniT GENOME
- Type of treatment
- Medical device
- How many people
- 9 participants
- Where
- 1 siteUnited States
- Study dates
- 29 May 2014to 30 Apr 2018
- Phase
- Observational
- 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 to 89 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Pregnant women with a fetus previously determined by microarray to have a chromosomal abnormality of interest..
Who may be able to join
- Subject is female
- Subject is 18 years of age or older
- Subject is pregnant at no less than 10 weeks and no more than 36 weeks gestation
- Subject provides a signed and dated informed consent
- Subject has a current pregnancy in which the fetus is determined to have a chormosomal abnormality of interest (microinsertions, microdeletions and other CNVs) as determined by microarray analysis of fetal cellular material obtained by IP
Who cannot join
- Subject has experienced fetal demise in the current pregnancy
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). The NIPT result will be compared to the test results obtained by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling.
Read the detailed description
This is a single center specimen collection study. Eligible subjects from across the USA will be referred to the single center for participation.
This study will evaluate whether the test methods being developed for the detection of fetal chromosomal abnormalities of interest in maternal whole blood samples can be used in clinical practice.
Enrollment of study subjects will be done in two phases - an initial pilot study phase to collect samples for research and development activities, followed by a larger single-blinded sample collection phase for NIPT evaluation. For both phases, study subjects will be enrolled in a prospective manner until the predetermined sample size is attained. Each study subject will be asked to provide one 20mL blood sample.
- Conditions
- Copy Number Variations
- Being tested
- MaterniT GENOME
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MaterniT GENOMEDevice
What is being measured
The primary outcome is the main question the study is designed to answer.
Development of non-invasive pregnancy test (NIPT)
NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Mar 2021
- Study start29 May 2014
- Primary completion30 Apr 2018
- Study completion30 Apr 2018
Why it stopped: Poor rate of eligible subject enrollment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Copy Number VariationsStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Columbia University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04774640
- Sponsor's protocol ID
- SQNM-T21-306
- Status last verified
- Feb 2021
- First submitted
- 25 Feb 2021
- Last updated
- 9 Aug 2023
- 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 9 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings
- ClinicalTrials.gov ID
- NCT04774640
- Acronym / sponsor ID
- SQNM-T21-306
- Conditions
- Copy Number Variations
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Poor rate of eligible subject enrollment
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Columbia University
- Study start
- 29 May 2014 (actual)
- Primary completion
- 30 Apr 2018 (actual)
- Study completion
- 30 Apr 2018 (actual)
- First posted
- 1 Mar 2021 (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.
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). The NIPT result will be compared to the test results obtained by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling.
Detailed description
This is a single center specimen collection study. Eligible subjects from across the USA will be referred to the single center for participation.
This study will evaluate whether the test methods being developed for the detection of fetal chromosomal abnormalities of interest in maternal whole blood samples can be used in clinical practice.
Enrollment of study subjects will be done in two phases - an initial pilot study phase to collect samples for research and development activities, followed by a larger single-blinded sample collection phase for NIPT evaluation. For both phases, study subjects will be enrolled in a prospective manner until the predetermined sample size is attained. Each study subject will be asked to provide one 20mL blood sample.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 89 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women with a fetus previously determined by microarray to have a chromosomal abnormality of interest..
Key inclusion criteria (5 listed)
- Subject is female
- Subject is 18 years of age or older
- Subject is pregnant at no less than 10 weeks and no more than 36 weeks gestation
- Subject provides a signed and dated informed consent
- Subject has a current pregnancy in which the fetus is determined to have a chormosomal abnormality of interest (microinsertions, microdeletions and other CNVs) as determined by microarray analysis of fetal cellular material obtained by IP
Key exclusion criteria (1 listed)
- Subject has experienced fetal demise in the current pregnancy
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 |
|---|---|---|
| MaterniT GENOME | Device | – |
Primary outcome
Development of non-invasive pregnancy test (NIPT)
Time frame: 5 years
NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling
Results and safety
The study was stopped early (reason given: Poor rate of eligible subject enrollment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Aug 2023.
- Individual participant dataSharing planned: No
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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Copy Number Variations, run by Sequenom, Inc. 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 5 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: stopped early, as of the sponsor's last update on 9 Aug 2023. 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?
The study was stopped early (reason given: Poor rate of eligible subject enrollment). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Development of non-invasive pregnancy test (NIPT) (time frame: 5 years). 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 9 Aug 2023; AzTrials last refreshed its copy on 6 Nov 2026.