Development of a NIPTT for Detecting Copy Number Variations

Copy Number Variations Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT04774640
• Other study ID #: SQNM-T21-306
• Status: Terminated
• Start date: May 29, 2014
• Est. completion date: April 30, 2018

Study information

• Verified date: February 2021
• Source: Sequenom, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 9
• Est. completion date: April 30, 2018
• Est. primary completion date: April 30, 2018
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years to 89 Years

Eligibility

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

Related Conditions & MeSH terms

• Copy Number Variations

Intervention

Device:
• MaterniT GENOME

Locations

Country	Name	City	State
United States	Columbia University	New York	New York

Sponsors (2)

Lead Sponsor	Collaborator
Sequenom, Inc.	Columbia University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Development of non-invasive pregnancy test (NIPT)	NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling	5 years