Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

Down Syndrome Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01597063
• Other study ID #: SQNM-T21-303
• Status: Completed
• Phase: N/A
• First received: May 9, 2012
• Last updated: April 18, 2016
• Start date: July 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: Institutional Review Board
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3333
• Est. completion date: December 2015
• Est. primary completion date: February 2014
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years to 34 Years

Eligibility

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

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Aneuploidy
• Down Syndrome
• Noninvasive Prenatal Screening

Intervention

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.

Locations

Country	Name	City	State
United States	New Horizon Women's Care	Chandler	Arizona
United States	Medical University of South Carolina	Charleston	South Carolina
United States	Providence Health Partners - Center for Clinical Research	Dayton	Ohio
United States	Descanso OBGYN	Glendale	California
United States	Woodglen Medical Group	Glendora	California
United States	Spectrum Health - Maternal Fetal Medicine	Grand Rapids	Michigan
United States	Hawaii Pacific Health	Honolulu	Hawaii
United States	University of Iowa Health Care	Iowa City	Iowa
United States	University of Kansas Medical Center	Kansas City	Kansas
United States	White Memorial GYN/OB Medical Group	Los Angeles	California
United States	University of South Alabama	Mobile	Alabama
United States	Virtua Health	Moorestown	New Jersey
United States	Virtua Health	Mt. Holly	New Jersey
United States	Magnolia OB/GYN Research Center- Recruiting	Myrtle Beach	South Carolina
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	Fair Oaks Women's Health	Pasadena	California
United States	Precision Trials	Phoenix	Arizona
United States	William Beaumont Hospital	Royal Oak	Michigan
United States	IGO Medical Group	San Diego	California
United States	West Coast OBGYN	San Diego	California
United States	Women's Health Care Research	San Diego	California
United States	Virtua Health	Sewell	New Jersey
United States	Visions Clinical Research Tuscon	Tucson	Arizona
United States	Women's Clinical Research	Vista	California
United States	Virtua Health	Voorhees	New Jersey

Sponsors (1)

Lead Sponsor	Collaborator
Sequenom, Inc.

Country where clinical trial is conducted

United States, 

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	Estimate the false positive rate of SEQureDx Trisomy 21 Test		pregnancy outcome	No