Down SyndromeNCT02317965
Non-Invasive Screening for Fetal Aneuploidy
An observational study of Down Syndrome and Edwards Syndrome, run by Progenity, Inc. at 10 sites in United States.
Trial summary
The purpose of this study is to detect whole chromosome abnormalities in maternal blood. Read more about this study
- Who is it for?
- Ages 18 to 54 years, women only
- Conditions the study is for
- Down Syndrome, Edwards Syndrome
- What is being tested?
- Maternal Blood Draw
- How many people
- 340 participants
- Where
- 10 sitesUnited States
- Study dates
- Mar 2015to Nov 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 54 years
- Women only
- No healthy volunteers
- Adult
Study population: Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Who may be able to join
- • Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive;
- Subject has additional risk indicators for fetal chromosome aneuploidy, including one or more of the following:
- Maternal age > 34 years at the estimated date of delivery;
- Positive serum screening test suggesting fetal aneuploidy;
- Previous positive noninvasive cfDNA test is acceptable
- Fetal ultrasound abnormality suggesting fetal chromosomal abnormality;
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- Personal or family history of Down syndrome or other chromosomal aneuploidy.
- Willing to provide written informed consent
- Willing to be re-contacted subsequently for additional information and/or testing if necessary.
Who cannot join
- Subjects will not be entered into this study if they meet the following criteria:
- Fetal demise at the time of the blood draw;
- Previous specimen donation under this protocol;
- Unwilling or lacks the capacity to provide informed consent or to comply with study procedures;
- Currently under treatment for cancer
- Any history of autoimmune disease
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- Any pelvic mass
- Previous history of radiation to pelvis
- Any history or current evidence of a twin demise at any gestational age.
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
United States10 sites
Obstetrix Medical Group of California
Campbell, California, 92708
Regional Obstetrical Consultants
Chattanooga, Tennessee, 37403
OBX Med. Group. of Colorado - Pres/St Luke's Clinic
Denver, Colorado, 80205
OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center
Denver, Colorado, 80220
OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.
Englewood, Colorado, 80113
Obstetrix Medical Group of Texas
Fort Worth, Texas, 76104
OBX Med. Group. of Colorado - Skyridge
Lone Tree, Colorado, 80124
Long Beach Memorial Medical Ctr - 2nd Floor Perinatal
Long Beach, California, 90806
Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center
Seattle, Washington, 98122
Obstetrix Medical Group of Houston
The Woodlands, Texas, 77380
About this study
Official title: A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
Read the detailed description
The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.
- Conditions
- Down Syndrome, Edwards Syndrome
- Being tested
- Maternal Blood Draw
- Medical subject headings
- Down Syndrome, Trisomy 18 Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Maternal Blood DrawOther
Maternal Blood Draw
| Study group | Role | What they receive |
|---|---|---|
| Pregnant Women | Pregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure
Intervention: Single Maternal blood draw of 20mL Receives: Other: Maternal Blood Draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis
A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma.
Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure.
The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard.
Measured: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2014 (estimated)
- Study startMar 2015
- Primary completionNov 2018 (estimated)
- Study completionNov 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies 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
- 340 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Progenity, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Obstetrix Medical Group
- Responsible party
- Sponsor
- Investigators
- Richard Porreco, MD, Principal investigator, Obstetrix Medical Group of ColoradoThomas Garite, MD, Study director, Obstetrix Medical Group
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02317965
- Sponsor's protocol ID
- PRO-100
- Status last verified
- Aug 2018
- First submitted
- 9 Dec 2014
- Last updated
- 28 Aug 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Porreco RP, Sekedat M, Bombard A, Garite TJ, Maurel K, Marusiak B, Adair D, Bleich A, Combs CA, Kramer W, Longo S, Nageotte M, Samuel A, Vanderhoeven J, Buis J, Jacobs KB, Stoerker J. Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma. J Med Screen. 2020 Mar;27(1):1-8. doi: 10.1177/0969141319873682. Epub 2019 Sep 11.
PubMed 31510865
Study at a glance
From the registry record, last updated by the sponsor on 28 Aug 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.
- ClinicalTrials.gov ID
- NCT02317965
- Acronym / sponsor ID
- PRO-100
- Conditions
- Down Syndrome, Edwards Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 340 participants (estimated)
- Lead sponsor
- Progenity, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Obstetrix Medical Group
- Study start
- Mar 2015
- Primary completion
- Nov 2018 (estimated)
- Study completion
- Nov 2018 (estimated)
- First posted
- 17 Dec 2014 (estimated)
- 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 detect whole chromosome abnormalities in maternal blood.
Detailed description
The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant Women | – | Other: Maternal Blood DrawPregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure Intervention: Single Maternal blood draw of 20mL |
Who may qualify
- Ages
- 18 to 54 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Key inclusion criteria (9 listed)
- • Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive;
Key exclusion criteria (9 listed)
- Subjects will not be entered into this study if they meet the following criteria:
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 |
|---|---|---|
| Maternal Blood DrawMaternal Blood Draw | Other | Pregnant Women |
Primary outcome
Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis
Time frame: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.
A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma. Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure. The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Aug 2018.
- Derived from this study: PubMed 31510865Porreco RP, Sekedat M, Bombard A, Garite TJ, Maurel K, Marusiak B, Adair D, Bleich A, Combs CA, Kramer W, Longo S, Nageotte M, Samuel A, Vanderhoeven J, Buis J, Jacobs KB, Stoerker J. Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma. J Med Screen. 2020 Mar;27(1):1-8. doi: 10.1177/0969141319873682. Epub 2019 Sep 11.
- Individual participant dataSharing planned: Undecided
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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.
Richard Porreco, MD principal investigator
Obstetrix Medical Group of Colorado
Thomas Garite, MD study director
Obstetrix Medical Group
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Edwards Syndrome, run by Progenity, Inc. at 10 sites 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 9 inclusion and 9 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 28 Aug 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites 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?
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?
Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis (time frame: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02317965, which also lists 1 linked publication.
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 28 Aug 2018.