Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies - Full Text View

Purpose

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

Condition
Down Syndrome Fetal Aneuploidy

Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Prospective
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

Resource links provided by NLM:

Genetics Home Reference related topics: Down syndrome tetrasomy 18p

MedlinePlus related topics: Down Syndrome

U.S. FDA Resources

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:

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. ] [ Designated as safety issue: No ]
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.

Secondary Outcome Measures:

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. ] [ Designated as safety issue: No ]
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.

Biospecimen Retention: Samples With DNA

Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.

Estimated Enrollment:	2200
Study Start Date:	March 2012
Estimated Study Completion Date:	September 2013
Estimated Primary Completion Date:	August 2013 (Final data collection date for primary outcome measure)

Groups/Cohorts
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.

Eligibility

Ages Eligible for Study:	18 Years to 60 Years
Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

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.

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01555346

Contacts

Contact: Allan T Bombard, MD, MBA	(858) 202-9000
Contact: Graham P McLennan, MS

Show 32 Study Locations

Sponsors and Collaborators

Sequenom, Inc.

Investigators

Study Director:

Allan T Bombard, MD, MBA

Sequenom, Inc.

More Information

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.

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.

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. Epub 2011 Feb 18.

Responsible Party:	Sequenom, Inc.
ClinicalTrials.gov Identifier:	NCT01555346 History of Changes
Other Study ID Numbers:	SQNM-T21-304
Study First Received:	February 15, 2012
Last Updated:	May 14, 2013
Health Authority:	United States: Food and Drug Administration

Keywords provided by Sequenom, Inc.:

Down syndrome
fetal aneuploidy
trisomy
noninvasive prenatal test

Additional relevant MeSH terms:

Aneuploidy
Down Syndrome
Chromosome Aberrations
Pathologic Processes
Mental Retardation
Neurobehavioral Manifestations

Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 21, 2013