AneuploidyNCT01597063
Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
An observational study of Aneuploidy and Down Syndrome, run by Sequenom, Inc. at 27 sites in United States.
Trial summary
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Read more about this study
- Who is it for?
- Ages 18 to 34 years, women only
- Conditions the study is for
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- What is being tested?
- SEQureDx Trisomy Test
- Type of treatment
- Medical device
- How many people
- 3,333 participants
- Where
- 27 sitesUnited States
- Study dates
- Jul 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 34 years
- Women only
- No healthy volunteers
- Adult
Study population: Pregnant with low risk for fetal chromosome 21 aneuploidy
Who may be able to join
- Pregnancy is 10-22 weeks gestation
- Between 18-34 years of age inclusive at estimated date of delivery
- No prenatal screening indicators for high risk including serum biochemical and ultrasound screening
- No personal or family history of Down syndrome
- Willing to provide written informed consent
- Willing to provide a whole blood sample
- Willing to provide access to medical records supporting fetal outcome
Who cannot join
- Fetal demise at the time of the blood draw
- Previous specimen donation under this protocol
Trial locations and contacts
27 sites in 1 country.
27 sites in 1 country
United States27 sites
New Horizon Women's Care
Chandler, Arizona, 85224
Medical University of South Carolina
Charleston, South Carolina, 29466
Providence Health Partners - Center for Clinical Research
Dayton, Ohio, 45439
Descanso OBGYN
Glendale, California, 91208
Woodglen Medical Group
Glendora, California, 91740
Spectrum Health - Maternal Fetal Medicine
Grand Rapids, Michigan, 49503
Hawaii Pacific Health
Honolulu, Hawaii, 96813
University of Iowa Health Care
Iowa City, Iowa, 52242
University of Kansas Medical Center
Kansas City, Kansas, 66160
White Memorial GYN/OB Medical Group
Los Angeles, California, 91740
University of South Alabama
Mobile, Alabama, 36604-3302
Virtua Health
Moorestown, New Jersey, 08057
Virtua Health
Mount Holly, New Jersey, 08060
Magnolia OB/GYN Research Center- Recruiting
Myrtle Beach, South Carolina, 29572
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
Fair Oaks Women's Health
Pasadena, California, 91105
Precision Trials
Phoenix, Arizona, 85032
William Beaumont Hospital
Royal Oak, Michigan, 48073
IGO Medical Group
San Diego, California, 92121
West Coast OBGYN
San Diego, California, 92123
Women's Health Care Research
San Diego, California, 92123
Virtua Health
Sewell, New Jersey, 08080
Visions Clinical Research Tuscon
Tucson, Arizona, 85712
Women's Clinical Research
Vista, California, 92081
Virtua Health
Voorhees Township, New Jersey, 08043
About this study
Official title: A Clinical Study to Evaluate the Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Being tested
- SEQureDx Trisomy Test
- Medical subject headings
- Aneuploidy, Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SEQureDx Trisomy TestDevice
Plasma samples obtained from maternal blood will be tested using the SEQureDx Trisomy Test, an in vitro diagnostic test that measures circulating cell-free fetal DNA. The test detects the relative quantity of chromosome 21, which is associated with trisomy 21.
| Study group | Role | What they receive |
|---|---|---|
| low risk pregnancies | Not described Receives: Device: SEQureDx Trisomy Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Estimate the false positive rate of SEQureDx Trisomy 21 Test
Measured: pregnancy outcome
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 May 2012 (estimated)
- Study startJul 2012
- Primary completionFeb 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 AneuploidyStudies 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
- 3,333 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Daniel Grossu, MD, Study director, Sequenom, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01597063
- Sponsor's protocol ID
- SQNM-T21-303
- Status last verified
- Apr 2016
- First submitted
- 9 May 2012
- Last updated
- 20 Apr 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Upon analysis of collected samples and submission for publication, data will be shared as per journal requirements.
Publications
Palomaki 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 21310373Palomaki 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 22281937
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 Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy
- ClinicalTrials.gov ID
- NCT01597063
- Acronym / sponsor ID
- SQNM-T21-303
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,333 participants (actual)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Study start
- Jul 2012
- Primary completion
- Feb 2014 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 11 May 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.
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| low risk pregnancies | – | Device: SEQureDx Trisomy Test |
Who may qualify
- Ages
- 18 to 34 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Pregnant with low risk for fetal chromosome 21 aneuploidy
Key inclusion criteria (7 listed)
- Pregnancy is 10-22 weeks gestation
- Between 18-34 years of age inclusive at estimated date of delivery
- No prenatal screening indicators for high risk including serum biochemical and ultrasound screening
- No personal or family history of Down syndrome
- Willing to provide written informed consent
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.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SEQureDx Trisomy TestPlasma samples obtained from maternal blood will be tested using the SEQureDx Trisomy Test, an in vitro diagnostic test that measures circulating cell-free fetal DNA. The test detects the relative quantity of chromosome 21, which is associated with trisomy 21. | Device | low risk pregnancies |
Primary outcome
Estimate the false positive rate of SEQureDx Trisomy 21 Test
Time frame: pregnancy outcome
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 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.
- 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.
- Individual participant dataSharing planned: Yes. Upon analysis of collected samples and submission for publication, data will be shared as per journal requirements.
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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.
Daniel Grossu, MD study director
Sequenom, Inc.
27 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Aneuploidy and Down Syndrome, run by Sequenom, Inc. at 27 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 7 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 27 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?
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?
Estimate the false positive rate of SEQureDx Trisomy 21 Test (time frame: pregnancy outcome). 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 NCT01597063, 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.