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

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ClinicalTrials.gov Identifier: NCT02541058
Recruitment Status : Unknown
Verified July 2016 by Roche Sequencing Solutions.
Recruitment status was:  Recruiting
First Posted : September 4, 2015
Last Update Posted : July 18, 2016
Sponsor:
Information provided by (Responsible Party):
Roche Sequencing Solutions

Brief Summary:
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication. Investigators will be evaluating subjects with abnormal U/S.

Condition or disease
DiGeorge Syndrome, Velocardiofacial Syndrome, 22q.11.2 Deletion Syndrome

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Study Type : Observational
Estimated Enrollment : 1000 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
Estimated Primary Completion Date : December 2017
Estimated Study Completion Date : December 2017


Group/Cohort
Patients without confirmed 22q.11.2 deletion/duplication
Patients with confirmed 22q.11.2 deletion/duplication



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
Retained samples included extracted DNA and plasma


Information from the National Library of Medicine

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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.


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


Contacts
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Contact: Romielle Aquino 408-209-9098 romielle.aquino@roche.com
Contact: Desiree Hollemon, MSN, MPH 503-686-8972 Desiree.Hollemon@roche.com

Locations
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Belgium
The Fetal Medicine Foundation Belgium Recruiting
Brussles, Belgium, 1020
Contact: Jacques Jani, MD    0032 2 477 3631    Jacques.Jani@chu-brugmann.be   
Contact: Elisa Bevilacqua, MD    0032 2 477 3631    elisa.bevilacqua@chubrugmann.be   
Principal Investigator: Jacques Jani, MD         
Sponsors and Collaborators
Roche Sequencing Solutions
Investigators
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Study Director: Thomas Musci, MD Roche Sequencing Solutions

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Responsible Party: Roche Sequencing Solutions
ClinicalTrials.gov Identifier: NCT02541058     History of Changes
Other Study ID Numbers: AD202
First Posted: September 4, 2015    Key Record Dates
Last Update Posted: July 18, 2016
Last Verified: July 2016

Keywords provided by Roche Sequencing Solutions:
Velocardiofacial Syndrome
Shprintzen Syndrome
Conotruncal Defects
Chromosomal Abnormalities
22q, 22q.11.2
deletion
duplication

Additional relevant MeSH terms:
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Syndrome
DiGeorge Syndrome
Craniosynostoses
Marfan Syndrome
Arachnodactyly
Disease
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases
Synostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Connective Tissue Diseases
Limb Deformities, Congenital