Non-Invasive Chromosomal Evaluation of 22q11.2

NCT02541058 | Completed

• 1 other identifier: AD202
• Study Type: observational
• Target: 420
• Locations: 1 country
• Sites: 1

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.

Conditions

22q.11.2 Deletion/Duplication

Keywords

Velocardiofacial Syndrome; Shprintzen Syndrome; Conotruncal Defects; Chromosomal Abnormalities; 22q, 22q.11.2; deletion; duplication

Outcome Measures

Primary Outcomes (1)

• Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients

  18 months

Study Arms (2)

Confirmed 22q.11.2 deletion/duplication

Suspected 22q.11.2 deletion/duplication

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.
• If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
• Patients must meet at least one of the following conditions at the time of enrollment:
• 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;
• 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;
• are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
• are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
• If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.

You may not qualify if:

• Patients meeting any of the following criteria will be excluded from the study:
• \. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.

Sponsors & Collaborators

• Cindy Cisneros: lead

Study Sites (1)

The Fetal Medicine Foundation Belgium

Brussles, 1020, Belgium

Location

Biospecimen

Retention: SAMPLES WITH DNA

Samples with DNA

MeSH Terms

Conditions

DiGeorge Syndrome; Chromosome Aberrations

Condition Hierarchy (Ancestors)

22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Frank Ong, MD

  Roche Sequencing Solutions

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: CRA

Study Record Dates

• First Submitted: September 2, 2015
• First Posted: September 4, 2015
• Study Start: June 1, 2015
• Primary Completion: March 17, 2020
• Study Completion: March 17, 2020
• Last Updated: April 30, 2020

Record last verified: 2020-04

Locations

BE (1)