Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

Down Syndrome Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01555346
• Other study ID #: SQNM-T21-304
• Status: Completed
• Phase: N/A
• First received: February 15, 2012
• Last updated: April 18, 2016
• Start date: March 2012
• Est. completion date: December 2015

Study information

• Verified date: April 2016
• Source: Sequenom, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Observational

Clinical Trial Summary

Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3062
• Est. completion date: December 2015
• Est. primary completion date: October 2014
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years to 60 Years

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• Fetal demise at the time of the blood draw

• Previous specimen donation under this protocol

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Aneuploidy
• Down Syndrome
• Fetal Aneuploidy

Locations

Country	Name	City	State
Canada	Chuq/Chul	Quebec City	Quebec
Canada	North York General Hospital	Toronto	Ontario
United States	University of Maryland	Baltimore	Maryland
United States	Obstetrix Medical Group of California	Campbell	California
United States	Regional Obstetrical Consultants	Chatanooga	Tennessee
United States	University of Cincinnati	Cincinnati	Ohio
United States	Complete Healthcare for Women	Columbus	Ohio
United States	Hawaii Pacific Health	Honolulu	Hawaii
United States	University of Iowa Health Care	Iowa City	Iowa
United States	Saint Lukes Hospital of Kansas City	Kansas City	Missouri
United States	University of Kansas Medical Center	Kansas City	Kansas
United States	Long Beach Memorial Medical Center	Long Beach	California
United States	Cedars-Sinai Medical Center	Los Angeles	California
United States	Norton Healthcare	Louisville	Kentucky
United States	South Florida Perinatal	Miami	Florida
United States	Southeast Perinatal Associates - Miramar	Miramar	Florida
United States	University of South Alabama	Mobile	Alabama
United States	San Gabriel Valley Perinatal Medical Center	Monterey Park	California
United States	Jersey Shore University Medical Center	Neptune	New Jersey
United States	Saint Peter's Hospital	New Brunswick	New Jersey
United States	University of Oklahoma Health Sciences Center	Oklahoma City	Oklahoma
United States	William Beaumont Hospital	Royal Oak	Michigan
United States	Scripps Clinic Carmel Valley	San Diego	California
United States	Obstetrix Medical Group of Washington, Inc.	Seattle	Washington
United States	Virtua Health	Sewell	New Jersey
United States	Willis-Knighton Physician Network	Shreveport	Louisiana
United States	Southeast Perinatal Associates - Weston	Sunrise	Florida
United States	Visions Clinical Research Tuscon	Tucson	Arizona
United States	Virtua Health	Voorhees	New Jersey

Sponsors (1)

Lead Sponsor	Collaborator
Sequenom, Inc.

Countries where clinical trial is conducted

United States,  Canada, 

References & Publications (3)

Ehrich 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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	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.	No
Secondary	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.	A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure.	No