Development of a NIPTT for Detecting Copy Number Variations

NCT ID: NCT04774640

Last Updated: 2023-08-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

9 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-05-29

Study Completion Date

2018-04-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Copy Number Variations

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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MaterniT GENOME

Intervention Type DEVICE

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

89 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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Columbia University

OTHER

Sponsor Role collaborator

Sequenom, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Columbia University

New York, New York, United States

Site Status

Countries

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United States

Other Identifiers

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SQNM-T21-306

Identifier Type: -

Identifier Source: org_study_id

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