Development of a NIPTT for Detecting Copy Number Variations

Sponsor

Sequenom, Inc. (Industry)

Overall Status

Terminated

CT.gov ID

NCT04774640

Collaborator

Columbia University (Other)

Enrollment

Location

Actual Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). The NIPT result will be compared to the test results obtained by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling.

Condition or Disease	Intervention/Treatment	Phase
Copy Number Variations	Device: MaterniT GENOME

Detailed Description

This is a single center specimen collection study. Eligible subjects from across the USA will be referred to the single center for participation.

This study will evaluate whether the test methods being developed for the detection of fetal chromosomal abnormalities of interest in maternal whole blood samples can be used in clinical practice.

Enrollment of study subjects will be done in two phases - an initial pilot study phase to collect samples for research and development activities, followed by a larger single-blinded sample collection phase for NIPT evaluation. For both phases, study subjects will be enrolled in a prospective manner until the predetermined sample size is attained. Each study subject will be asked to provide one 20mL blood sample.

Study Design

Study Type:

Observational

Actual Enrollment :

9 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings

Actual Study Start Date :

May 29, 2014

Actual Primary Completion Date :

Apr 30, 2018

Actual Study Completion Date :

Apr 30, 2018

Outcome Measures

Primary Outcome Measures

Development of non-invasive pregnancy test (NIPT) [5 years]
NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

Female

Accepts Healthy Volunteers:

Inclusion Criteria:

Subject is female
Subject is 18 years of age or older
Subject is pregnant at no less than 10 weeks and no more than 36 weeks gestation
Subject provides a signed and dated informed consent
Subject has a current pregnancy in which the fetus is determined to have a chormosomal abnormality of interest (microinsertions, microdeletions and other CNVs) as determined by microarray analysis of fetal cellular material obtained by IP

Exclusion Criteria:

Subject has experienced fetal demise in the current pregnancy

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Columbia University	New York	New York	United States	10032

Sponsors and Collaborators

Sequenom, Inc.
Columbia University

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Sequenom, Inc.

ClinicalTrials.gov Identifier:

NCT04774640

Other Study ID Numbers:

SQNM-T21-306

First Posted:

Mar 1, 2021

Last Update Posted:

Mar 1, 2021

Last Verified:

Feb 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Study Results

No Results Posted as of Mar 1, 2021