Non-Invasive Chromosomal Evaluation of 22q11.2 (22Q)

April 28, 2020 updated by: Cindy Cisneros

Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma

This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

420

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Belgium
      • Brussles, Belgium, 1020
        • The Fetal Medicine Foundation Belgium

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Pregnant women carrying a fetus at risk or a confirmed fetus with 22q11.2 deletion/duplication. A person confirmed to have 22q11.2 deletion/duplication or a biologically related parent of a child that has chromosomal deletion/duplication in the region of 22q11.2.

Description

Inclusion Criteria:

  1. Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
  2. If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.

  3. Patients must meet at least one of the following conditions at the time of enrollment:

    1. are pregnant with abnormal fetal cardiac findings on ultrasound and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
    2. are pregnant with fetal ultrasound findings consistent with a 22q11.2 deletion/duplication phenotype and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
    3. are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
    4. are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
  4. If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.

Exclusion Criteria

Patients meeting any of the following criteria will be excluded from the study:

1. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Confirmed 22q.11.2 deletion/duplication
Suspected 22q.11.2 deletion/duplication

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Time Frame: 18 months
18 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cindy Cisneros

Investigators

  • Study Director: Frank Ong, MD, Roche Sequencing Solutions

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2015

Primary Completion (Actual)

March 17, 2020

Study Completion (Actual)

March 17, 2020

Study Registration Dates

First Submitted

September 2, 2015

First Submitted That Met QC Criteria

September 2, 2015

First Posted (Estimate)

September 4, 2015

Study Record Updates

Last Update Posted (Actual)

April 30, 2020

Last Update Submitted That Met QC Criteria

April 28, 2020

Last Verified

April 1, 2020

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • AD202

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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