Down SyndromeNCT02787486
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
An observational study of Down Syndrome and Edwards Syndrome, run by Progenity, Inc. at 8 sites in United States.
Trial summary
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS… 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, Patau Syndrome
- What is being tested?
- Blood sampling for Laboratory Developed Test (LDT) analysis
- How many people
- 760 participants
- Where
- 8 sitesUnited States
- Study dates
- Oct 2015to Sep 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: All pregnant women undergoing standard maternal serum screening for fetal aneuploidy will be considered for enrollment as well as those with a priori risk factors for fetal aneuploidy.
Who may be able to join
- Subject is willing to provide informed consent and comply with study procedures
- Pregnant female, 18 to 54 years of age carrying a singleton fetus of 8 to 22 weeks gestational age
- Willing to provide a study blood sample in accordance with the protocol
- Willing to allow access to her medical records to collect pregnancy outcome information
- Willing to provide consent for release of fetal karyotype if an invasive procedure (CVS or amniocentesis) is performed during the pregnancy
- Subject is known to be at risk for one or more of the following:
Show all 10Show fewer
- fetal gene and chromosome abnormalities (e.g., T21, T18, T13, microdeletion syndromes, sex chromosome abnormalities)
- congenital fetal infection (e.g. toxoplasmosis, syphilis, HIV, rubella, CMV, HSV)
- irregular blood group antigens (subject or father of the baby)
- other condition amenable to noninvasive prenatal testing such as a single gene disorder (e.g., CF, sickle cell, Fragile X)
Who cannot join
- No fetal heart activity detected
- Mother or father have known chromosomal abnormalities (including known balanced translocations)
- Women with active or history of malignancy
Trial locations and contacts
8 sites in 1 country.
8 sites in 1 country
United States8 sites
Newlife Wellness OBGYN
Brooklyn, New York, 11220
Regional Obstetrical Consultants
Chattanooga, Tennessee, 37403
Cincinnati Obgyn
Cincinnati, Ohio, 45219
Heinen Obstectrics & Gynecology
Eunice, Louisiana, 70535
Lakeshore Women's Specialists
Mooresville, North Carolina, 28117
James D. Kasten, M.D., Inc.
Norwalk, Ohio, 44857
Valley Perinatal
Scottsdale, Arizona, 85258
Texas Maternal-Fetal Medicine
Webster, Texas, 77598
About this study
Official title: A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician.
Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test.
To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.
Read the detailed description
Eligible subjects will provide written informed consent after which basic demographic and clinical data will be collected.
Study procedures involve the collection of 50 mL of whole blood at one or more monthly clinic visits (≥25 days apart) from pregnant women (18 to 54 yrs of age) carrying a single fetus of 8 to 22 weeks of gestational age inclusive.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome
- Being tested
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Keywords
- Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, DiGeorge syndrome, Chromosome Deletion, Aneuploidy
- Medical subject headings
- Down Syndrome, Trisomy 18 Syndrome, Trisomy 13 Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampling for Laboratory Developed Test (LDT) analysisOther
Each enrolled subject, either in the first or second trimester, will donate up to 50 mL (just over 3 tablespoons) of whole blood for development of the LDT
| Study group | Role | What they receive |
|---|---|---|
| Aneuploidy Arm | Includes pregnant women at high risk for fetal chromosome aneuploidy for serum screening Receives: Other: Blood sampling for Laboratory Developed Test (LDT) analysis | |
| TORCH Arm | Infectious disease arm: Toxoplasmosis, other viruses, rubella, cytomegalovirus, and herpes simplex virus (TORCH). Includes pregnant women at low-risk for fetal aneuploidy that may be at increased risk for fetal infection for serum screening Receives: Other: Blood sampling for Laboratory Developed Test (LDT) analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal abnormalities
Primary Objective
Measured: about 3 years
Secondary outcomes (1)
To estimate the false positive rate of the LDT versus birth outcome (trisomy or Unaffected/ non-trisomy) in a low-risk sub-population of pregnant women undergoing serum biochemical screening for fetal aneuploidy.
Measured: about 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jun 2016 (estimated)
- Study startOct 2015
- Primary completionSep 2018
- Study completionSep 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 760 participants (actual)
Sponsor and investigators
- Lead sponsor
- Progenity, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Stiegler, PhD, Study director, Head of Clinical Affairs
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02787486
- Sponsor's protocol ID
- PRO-102-ENIGMA
- Status last verified
- Jan 2019
- First submitted
- 26 May 2016
- Last updated
- 21 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women
- ClinicalTrials.gov ID
- NCT02787486
- Acronym / sponsor ID
- PRO-102-ENIGMA
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome
- Keywords
- Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, DiGeorge syndrome, Chromosome Deletion, Aneuploidy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 760 participants (actual)
- Lead sponsor
- Progenity, Inc.Industry (pharma, biotech, devices)
- Study start
- Oct 2015 (actual)
- Primary completion
- Sep 2018 (actual)
- Study completion
- Sep 2018 (actual)
- First posted
- 1 Jun 2016 (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.
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician.
Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test.
To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.
Detailed description
Eligible subjects will provide written informed consent after which basic demographic and clinical data will be collected.
Study procedures involve the collection of 50 mL of whole blood at one or more monthly clinic visits (≥25 days apart) from pregnant women (18 to 54 yrs of age) carrying a single fetus of 8 to 22 weeks of gestational age inclusive.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Aneuploidy Arm | – | Other: Blood sampling for Laboratory Developed Test (LDT) analysisIncludes pregnant women at high risk for fetal chromosome aneuploidy for serum screening |
| TORCH Arm | – | Other: Blood sampling for Laboratory Developed Test (LDT) analysisInfectious disease arm: Toxoplasmosis, other viruses, rubella, cytomegalovirus, and herpes simplex virus (TORCH). Includes pregnant women at low-risk for fetal aneuploidy that may be at increased risk for fetal infection for serum screening |
Who may qualify
- Ages
- 18 to 54 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- All pregnant women undergoing standard maternal serum screening for fetal aneuploidy will be considered for enrollment as well as those with a priori risk factors for fetal aneuploidy.
Key inclusion criteria (10 listed)
- Subject is willing to provide informed consent and comply with study procedures
- Pregnant female, 18 to 54 years of age carrying a singleton fetus of 8 to 22 weeks gestational age
- Willing to provide a study blood sample in accordance with the protocol
- Willing to allow access to her medical records to collect pregnancy outcome information
- Willing to provide consent for release of fetal karyotype if an invasive procedure (CVS or amniocentesis) is performed during the pregnancy
Key exclusion criteria (3 listed)
- No fetal heart activity detected
- Mother or father have known chromosomal abnormalities (including known balanced translocations)
- Women with active or history of malignancy
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 |
|---|---|---|
| Blood sampling for Laboratory Developed Test (LDT) analysisEach enrolled subject, either in the first or second trimester, will donate up to 50 mL (just over 3 tablespoons) of whole blood for development of the LDT | Other | Aneuploidy Arm, TORCH Arm |
Primary outcome
Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal abnormalities
Time frame: about 3 years
Primary Objective
1 secondary outcome
To estimate the false positive rate of the LDT versus birth outcome (trisomy or Unaffected/ non-trisomy) in a low-risk sub-population of pregnant women undergoing serum biochemical screening for fetal aneuploidy.
Time frame: about 3 years
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 21 Aug 2019.
- 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.
Peter Stiegler, PhD study director
Head of Clinical Affairs
8 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 8 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 10 inclusion and 3 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 21 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 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?
Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal abnormalities (time frame: about 3 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 21 Aug 2019.