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Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

This study is currently recruiting participants.
Verified May 2016 by Progenity, Inc.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02787486
First Posted: June 1, 2016
Last Update Posted: June 1, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Progenity, Inc.
  Purpose

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.


Condition Intervention
Down Syndrome Edwards Syndrome Patau Syndrome Klinefelter Syndrome Turner Syndrome DiGeorge Syndrome Chromosome Deletion Aneuploidy Other: Blood sampling for Laboratory Developed Test (LDT) analysis

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
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

Resource links provided by NLM:


Further study details as provided by Progenity, Inc.:

Primary Outcome Measures:
  • 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


Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA
Whole blood

Estimated Enrollment: 2500
Study Start Date: October 2015
Estimated Study Completion Date: June 2018
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Aneuploidy Arm
Includes pregnant women at high risk for fetal chromosome aneuploidy for serum screening
Other: Blood sampling for Laboratory Developed Test (LDT) analysis
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
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
Other: Blood sampling for Laboratory Developed Test (LDT) analysis
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

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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years to 54 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
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.
Criteria

Inclusion Criteria:

  • 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:
  • 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)

Exclusion Criteria:

  • No fetal heart activity detected
  • Mother or father have known chromosomal abnormalities (including known balanced translocations)
  • Women with active or history of malignancy
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02787486


Contacts
Contact: Zulema Sanchez, BA 760-494-1742 zulema.sanchez@progenity.com
Contact: Paul Bien, MS 760-494-1743 paul.bien@progenity.com

Locations
United States, Arizona
Valley Perinatal Recruiting
Scottsdale, Arizona, United States, 85258
Contact: Ravi Gunatilake, MD    480-756-6000      
United States, Louisiana
Heinen Obstectrics & Gynecology Recruiting
Eunice, Louisiana, United States, 70535
Contact: Monty Heinan, MD    337-546-6237      
United States, New York
Newlife Wellness OBGYN Recruiting
Brooklyn, New York, United States, 11220
Contact: Lisa Eng, DO    718-567-0730      
United States, North Carolina
Lakeshore Women's Specialists Recruiting
Mooresville, North Carolina, United States, 28117
Contact: Todd J. Adams, MD, MPH, FACOG    704-658-9211      
United States, Ohio
Cincinnati Obgyn Recruiting
Cincinnati, Ohio, United States, 45219
Contact: David B Schwartz, MD    513-241-4223      
James D. Kasten, M.D., Inc. Recruiting
Norwalk, Ohio, United States, 44857
Contact: James D Kasten, MD, FACOG    419-668-2686      
United States, Tennessee
Regional Obstetrical Consultants Recruiting
Chattanooga, Tennessee, United States, 37403
Contact: Charles David Adair, MD    423-664-4460      
United States, Texas
Texas Maternal-Fetal Medicine Recruiting
Webster, Texas, United States, 77598
Contact: Nima Goharkhay, MD    832-632-1908      
Sponsors and Collaborators
Progenity, Inc.
Investigators
Study Director: Paul Bien, MS Head of Clinical Affairs
  More Information

Responsible Party: Progenity, Inc.
ClinicalTrials.gov Identifier: NCT02787486     History of Changes
Other Study ID Numbers: PRO-102-ENIGMA
First Submitted: May 26, 2016
First Posted: June 1, 2016
Last Update Posted: June 1, 2016
Last Verified: May 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Progenity, Inc.:
Down syndrome
Edwards syndrome
Patau syndrome
Klinefelter syndrome
DiGeorge syndrome
Chromosome Deletion
Aneuploidy

Additional relevant MeSH terms:
Syndrome
Down Syndrome
Turner Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Aneuploidy
Klinefelter Syndrome
DiGeorge Syndrome
Chromosome Deletion
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Sex Chromosome Disorders
Gonadal Disorders
Endocrine System Diseases
Ovarian Diseases