Down SyndromeNCT01555346
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
An observational study of Down Syndrome and Fetal Aneuploidy, run by Sequenom, Inc. at 29 sites in 2 countries.
Trial summary
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test. Read more about this study
- Who is it for?
- Ages 18 to 60 years, women only
- Conditions the study is for
- Down Syndrome, Fetal Aneuploidy
- How many people
- 3,062 participants
- Where
- 29 sitesin 2 countries
- Study dates
- Mar 2012to Dec 2015
- 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 60 years
- Women only
- No healthy volunteers
- Adult
Study population: Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.
Who may be able to join
- Pregnant woman 18 years of age or older at 10 - 22 weeks gestation inclusive
- Subject has one or more high risk indicator for fetal chromosome 21 aneuploidy
- Subject provides signed and dated informed consent
- Subject agrees to provide a whole blood sample
Who cannot join
- Fetal demise at the time of the blood draw
- Previous specimen donation under this protocol
Trial locations and contacts
29 sites in 2 countries.
29 sites in 2 countries
United States27 sites
University of Maryland
Baltimore, Maryland, 21201
Obstetrix Medical Group of California
Campbell, California, 95008
Regional Obstetrical Consultants
Chatanooga, Tennessee, 37403
University of Cincinnati
Cincinnati, Ohio, 45267
Complete Healthcare for Women
Columbus, Ohio, 43231
Hawaii Pacific Health
Honolulu, Hawaii, 96813
University of Iowa Health Care
Iowa City, Iowa, 52242
University of Kansas Medical Center
Kansas City, Kansas, 66160
Saint Lukes Hospital of Kansas City
Kansas City, Missouri, 64111
Long Beach Memorial Medical Center
Long Beach, California, 90806
Cedars-Sinai Medical Center
Los Angeles, California, 90048
Norton Healthcare
Louisville, Kentucky, 40207
South Florida Perinatal
Miami, Florida, 33175
Southeast Perinatal Associates - Miramar
Miramar, Florida, 33029
University of South Alabama
Mobile, Alabama, 36604-3302
San Gabriel Valley Perinatal Medical Center
Monterey Park, California, 91754
Jersey Shore University Medical Center
Neptune City, New Jersey, 07753
Saint Peter's Hospital
New Brunswick, New Jersey, 08901
University of Oklahoma Health Sciences Center
Oklahoma City, Oklahoma, 73104
William Beaumont Hospital
Royal Oak, Michigan, 48073
Scripps Clinic Carmel Valley
San Diego, California, 92130
Obstetrix Medical Group of Washington, Inc.
Seattle, Washington, 98104
Virtua Health
Sewell, New Jersey, 08080
Willis-Knighton Physician Network
Shreveport, Louisiana, 71118
Southeast Perinatal Associates - Weston
Sunrise, Florida, 33323
Visions Clinical Research Tuscon
Tucson, Arizona, 85712
Virtua Health
Voorhees Township, New Jersey, 08043
Canada2 sites
Chuq/Chul
Québec, Quebec, G1V 4G2
North York General Hospital
Toronto, Ontario
About this study
Official title: A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Keywords
- Down syndrome, fetal aneuploidy, trisomy, noninvasive prenatal test
- Medical subject headings
- Down Syndrome, Trisomy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| High risk pregnant subjects undergoing an invasive procedure | Women with one or more high risk factors for fetal chromosome 21 aneuploidy scheduled to undergo an invasive procedure for fetal karyotype determination. | |
| High risk subjects electing not to undergo invasive procedure | Women with one or more high risk factors for fetal chromosome 21 aneuploidy who elect not to undergo an invasive procedure for fetal karyotype determination. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical Assay Performance
Each subject will provide a single blood sample prior to undergoing an amniocentesis/CVS that will be processed to plasma and stored frozen until the end of the study. Frozen plasma samples will then be analyzed using the SEQureDx Trisomy Test and the sensitivity and specificity of the assay will be determined by comparing the plasma test results to the fetal karyotyping results obtained via aminiocentesis or CVS. A subject's participation ends after the results of the fetal karyotype are obtained and recorded.
Measured: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype.
Secondary outcomes (1)
Subject selection bias assessment
All subjects that enter the study are at high risk for fetal aneuploidy. However, sensitivity and specificity of the assay will be based upon those subjects that have a confirmed fetal karyotype obtained by amniocentesis/CVS. Subject selection bias assessment will be done by comparing SEQureDx Trisomy T21 Test results between women who agree to undergo an invasive procedure to obtain fetal karyotype and women who elect not to undergo an invasive procedure.
Measured: A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2012 (estimated)
- Study startMar 2012
- Primary completionOct 2014
- Study completionDec 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)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
- Case only
- Time perspective
- Prospective
- Enrolment
- 3,062 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Juan-Sebastian Saldivar, MD, Study director, Sequenom Laboratories
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01555346
- Sponsor's protocol ID
- SQNM-T21-304
- Status last verified
- Apr 2016
- First submitted
- 15 Feb 2012
- Last updated
- 20 Apr 2016
- Results posted
- No
- Data monitoring committee
- No
Publications
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
PubMed 22281937Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
PubMed 22005709Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.
PubMed 21310373
Study at a glance
From the registry record, last updated by the sponsor on 20 Apr 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy
- ClinicalTrials.gov ID
- NCT01555346
- Acronym / sponsor ID
- SQNM-T21-304
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Keywords
- Down syndrome, fetal aneuploidy, trisomy, noninvasive prenatal test
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,062 participants (actual)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Study start
- Mar 2012
- Primary completion
- Oct 2014 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 15 Mar 2012 (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.
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| High risk pregnant subjects undergoing an invasive procedure | – | –Women with one or more high risk factors for fetal chromosome 21 aneuploidy scheduled to undergo an invasive procedure for fetal karyotype determination. |
| High risk subjects electing not to undergo invasive procedure | – | –Women with one or more high risk factors for fetal chromosome 21 aneuploidy who elect not to undergo an invasive procedure for fetal karyotype determination. |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.
Key inclusion criteria (4 listed)
- Pregnant woman 18 years of age or older at 10 - 22 weeks gestation inclusive
- Subject has one or more high risk indicator for fetal chromosome 21 aneuploidy
- Subject provides signed and dated informed consent
- Subject agrees to provide a whole blood sample
Key exclusion criteria (2 listed)
- Fetal demise at the time of the blood draw
- Previous specimen donation under this protocol
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical Assay Performance
Time frame: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype.
Each subject will provide a single blood sample prior to undergoing an amniocentesis/CVS that will be processed to plasma and stored frozen until the end of the study. Frozen plasma samples will then be analyzed using the SEQureDx Trisomy Test and the sensitivity and specificity of the assay will be determined by comparing the plasma test results to the fetal karyotyping results obtained via aminiocentesis or CVS. A subject's participation ends after the results of the fetal karyotype are obtained and recorded.
1 secondary outcome
Subject selection bias assessment
Time frame: A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Apr 2016.
- Background: PubMed 22281937Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
- Background: PubMed 22005709Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
- Background: PubMed 21310373Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.
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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.
Juan-Sebastian Saldivar, MD study director
Sequenom Laboratories
29 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Fetal Aneuploidy, run by Sequenom, Inc. at 29 sites in 2 countries.
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 4 inclusion and 2 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: finished, as of the sponsor's last update on 20 Apr 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 29 sites in United States, Canada. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Clinical Assay Performance (time frame: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype.). 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 NCT01555346, which also lists 3 linked publications.
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 20 Apr 2016.