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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02541058
Recruitment Status : Completed
First Posted : September 4, 2015
Last Update Posted : April 30, 2020
Sponsor:
Information provided by (Responsible Party):
Cindy Cisneros, Roche Sequencing Solutions

Study Description
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Brief Summary:
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.

Condition or disease
22q.11.2 Deletion/Duplication

Study Design
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Study Type : Observational
Actual Enrollment : 420 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
Study Start Date : June 2015
Actual Primary Completion Date : March 17, 2020
Actual Study Completion Date : March 17, 2020

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Groups and Cohorts
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Group/Cohort
Confirmed 22q.11.2 deletion/duplication
Suspected 22q.11.2 deletion/duplication


Outcome Measures
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Primary Outcome Measures :
  1. Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients [ Time Frame: 18 months ]

Biospecimen Retention:   Samples With DNA
Samples with DNA

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

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.

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02541058


Locations
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Belgium
The Fetal Medicine Foundation Belgium
Brussles, Belgium, 1020
Sponsors and Collaborators
Cindy Cisneros
Investigators
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Study Director: Frank Ong, MD Roche Sequencing Solutions
More Information
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Responsible Party: Cindy Cisneros, CRA, Roche Sequencing Solutions
ClinicalTrials.gov Identifier: NCT02541058    
Other Study ID Numbers: AD202
First Posted: September 4, 2015    Key Record Dates
Last Update Posted: April 30, 2020
Last Verified: April 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Keywords provided by Cindy Cisneros, Roche Sequencing Solutions:
Velocardiofacial Syndrome
Shprintzen Syndrome
Conotruncal Defects
Chromosomal Abnormalities
 22q, 22q.11.2
deletion
duplication