Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies - Full Text View

Purpose

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.

Condition	Intervention
Aneuploidy Down Syndrome Noninvasive Prenatal Screening	Device: SEQureDx Trisomy Test

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

Resource links provided by NLM:

Genetics Home Reference related topics: Down syndrome tetrasomy 18p

MedlinePlus related topics: Down Syndrome Prenatal Care

U.S. FDA Resources

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:

Estimate the false positive rate of SEQureDx Trisomy 21 Test [ Time Frame: pregnancy outcome ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

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

Estimated Enrollment:	3000
Study Start Date:	July 2012
Estimated Study Completion Date:	December 2013
Estimated Primary Completion Date:	December 2013 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
low risk pregnancies	Device: SEQureDx Trisomy Test 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.

Eligibility

Ages Eligible for Study:	18 Years to 34 Years
Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Pregnant with low risk for fetal chromosome 21 aneuploidy

Criteria

Inclusion Criteria:

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

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: NCT01597063

Contacts

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

Locations

United States, Alabama
University of South Alabama	Recruiting
Mobile, Alabama, United States, 36604-3302
Contact: Casey Armistead 251-415-1598 marmistead@usouthal.edu
Principal Investigator: David Lewis, MD
United States, Arizona
New Horizon Women's Care	Recruiting
Chandler, Arizona, United States, 85224
Contact: Lisa Taylor 480-496-2236 LISAT@precisiontrials.com
Principal Investigator: Andrew C Villa, MD
Precision Trials	Recruiting
Phoenix, Arizona, United States, 85032
Contact: Mari Alexander 302-931-4507 ext 221 MARI@precisiontrials.com
Principal Investigator: Steven Wininger, MD
Visions Clinical Research Tuscon	Recruiting
Tucson, Arizona, United States, 85712
Contact: Cynthia Goldberg, MD 520-546-4700 cgoldberg@visionstuscon.com
Contact: Brenda Pollock bpollock@visionstuscon.com
Principal Investigator: Cynthia Goldgerg, MD
United States, California
Descanso OBGYN	Recruiting
Glendale, California, United States, 91208
Contact: Deserie Guzman 818-952-6300
Principal Investigator: Tatiana Spicakova, PhD
Woodglen Medical Group	Recruiting
Glendora, California, United States, 91740
Contact: Jacueline Dator 626-963-4124
Principal Investigator: Tatiana Spicakova, PhD
White Memorial GYN/OB Medical Group	Recruiting
Los Angeles, California, United States, 91740
Contact: Alyana Orozco 323-225-4300
Principal Investigator: Tatiana Spicakova, PhD
Fair Oaks Women's Health	Recruiting
Pasadena, California, United States, 91105
Contact: Joanne Lopez 626-304-2626
Principal Investigator: Tatiana Spicakova, PhD
West Coast OBGYN	Recruiting
San Diego, California, United States, 92123
Contact: Pam Waak 858-277-9378 pwaak@aol.com
Principal Investigator: Craig Saffer, MD
IGO Medical Group	Recruiting
San Diego, California, United States, 92121
Contact: Emily Cardy, MS,TS 858-455-1248 ext 137 ecardey@igomed.com
Principal Investigator: Sheila A Hendry, PhD
Women's Health Care Research	Recruiting
San Diego, California, United States, 92123
Contact: Nora Martinez 858-505-8672 research@womenwellness.com
Principal Investigator: Rovena Reagan, MD
Women's Clinical Research	Recruiting
Vista, California, United States, 92081
Contact: Mary Fenton, RN 760-630-2662 mfentornrn@gmail.com
Principal Investigator: Douglas Fenton, MD
United States, Hawaii
Hawaii Pacific Health	Recruiting
Honolulu, Hawaii, United States, 96813
Contact: Glenda Dunn 808-983-8749 glenda.dunn@Hawaiipacifichealth.org
Principal Investigator: Deena Towner, MD
United States, Iowa
University of Iowa Health Care	Recruiting
Iowa City, Iowa, United States, 52242
Contact: Diedre Fleener 319-356-2913 deidre-fleener@uiowa.edu
Principal Investigator: Asha Rijhsinghani, MD
United States, Kansas
University of Kansas Medical Center	Recruiting
Kansas City, Kansas, United States, 66160
Contact: Linda Samuelson, RN 913-588-6271
Principal Investigator: Carl Weiner, MD
United States, Michigan
Spectrum Health - Maternal Fetal Medicine	Recruiting
Grand Rapids, Michigan, United States, 49503
Contact: Lori Oosterman 616-391-3681 lori.oosterman@spectrum-health.org
Principal Investigator: Asad Sheikh, MD
William Beaumont Hospital	Recruiting
Royal Oak, Michigan, United States, 48073
Contact: Evie Russell 248-898-5388 evie.russell@beaumont.edu
Principal Investigator: Richard Bronsteen, MD
United States, New Jersey
Virtua Health	Recruiting
Moorestown, New Jersey, United States, 08057
Contact: Erin Obermeier 856-291-8884 eobermeier@virtua.org
Principal Investigator: Ronald Librizzi, DO
Virtua Health	Recruiting
Mt. Holly, New Jersey, United States, 08060
Contact: Erin Obermeier 856-291-8884 eobermeier@virtua.org
Principal Investigator: Ronald Librizzi, DO
Jersey Shore University Medical Center	Recruiting
Neptune, New Jersey, United States, 07753
Contact: LaShawn Jenkins 732-776-2416 LJenkins@meridianhealth.com
Principal Investigator: Mark Martens, MD
Saint Peter's Hospital	Recruiting
New Brunswick, New Jersey, United States, 08901
Contact: Marian Lake 732-745-8600 ext 8182 mlake@saintpetersuh.com
Principal Investigator: Amen L Ness, MD
Virtua Health	Recruiting
Sewell, New Jersey, United States, 08080
Contact: Erin Obermeier 856-291-8884 EObermeier@virtua.org
Principal Investigator: Ronald Librizzi, DO
Virtua Health	Recruiting
Voorhees, New Jersey, United States, 08043
Contact: Erin Obermeier 856-291-8884 eobermeier@virtua.org
Principal Investigator: Ronald Librizzi, DO
United States, Ohio
Providence Health Partners - Center for Clinical Research	Recruiting
Dayton, Ohio, United States, 45439
Contact: Chantel S McManaway, LPN 937-297-8988 cmcmanaway@provmedgroup.com
Principal Investigator: Charles Watson, DO
United States, Oklahoma
University of Oklahoma Health Sciences Center	Recruiting
Oklahoma City, Oklahoma, United States, 73104
Contact: Shelly Hooper 405-271-8001 ext 48197
Principal Investigator: Eric Knudtson, MD
United States, South Carolina
Medical University of South Carolina	Recruiting
Charleston, South Carolina, United States, 29466
Contact: Betty Oswald 843-792-0347 oswaldbw@musc.edu
Principal Investigator: Christopher Robinson, MD
Magnolia OB/GYN Research Center- Recruiting	Recruiting
Myrtle Beach, South Carolina, United States, 29572
Contact: Ann Scandariato, RN, CCRC 843-449-0803
Principal Investigator: Helena Kirkpatrick, MD

Sponsors and Collaborators

Sequenom, Inc.

More Information

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.

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.

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.

Responsible Party:	Sequenom, Inc.
ClinicalTrials.gov Identifier:	NCT01597063 History of Changes
Other Study ID Numbers:	SQNM-T21-303
Study First Received:	May 9, 2012
Last Updated:	May 14, 2013
Health Authority:	United States: Institutional Review Board

Additional relevant MeSH terms:

Aneuploidy
Down Syndrome
Trisomy
Chromosome Aberrations
Pathologic Processes
Mental Retardation
Neurobehavioral Manifestations

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

ClinicalTrials.gov processed this record on May 16, 2013