Ignite Creation Date:
2025-12-25 @ 12:13 AM
Ignite Modification Date:
2026-01-05 @ 1:08 AM
Study NCT ID:
NCT02541058
Status:
COMPLETED
Last Update Posted:
2020-04-30
First Post:
2015-09-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Non-Invasive Chromosomal Evaluation of 22q11.2
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D004062', 'term': 'DiGeorge Syndrome'}, {'id': 'D002869', 'term': 'Chromosome Aberrations'}], 'ancestors': [{'id': 'D058165', 'term': '22q11 Deletion Syndrome'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D044148', 'term': 'Lymphatic Abnormalities'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D007011', 'term': 'Hypoparathyroidism'}, {'id': 'D010279', 'term': 'Parathyroid Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Samples with DNA'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 420}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-06'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-04', 'completionDateStruct': {'date': '2020-03-17', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2020-04-28', 'studyFirstSubmitDate': '2015-09-02', 'studyFirstSubmitQcDate': '2015-09-02', 'lastUpdatePostDateStruct': {'date': '2020-04-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-09-04', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2020-03-17', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients', 'timeFrame': '18 months'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Velocardiofacial Syndrome', 'Shprintzen Syndrome', 'Conotruncal Defects', 'Chromosomal Abnormalities', '22q, 22q.11.2', 'deletion', 'duplication'], 'conditions': ['22q.11.2 Deletion/Duplication']}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. 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.\n2. If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.\n3. Patients must meet at least one of the following conditions at the time of enrollment:\n\n 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;\n 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;\n 3. are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;\n 4. are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;\n4. If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.\n\nExclusion Criteria\n\nPatients meeting any of the following criteria will be excluded from the study:\n\n1\\. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.'}, 'identificationModule': {'nctId': 'NCT02541058', 'acronym': '22Q', 'briefTitle': 'Non-Invasive Chromosomal Evaluation of 22q11.2', 'organization': {'class': 'INDUSTRY', 'fullName': 'Roche Sequencing Solutions'}, 'officialTitle': 'Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma', 'orgStudyIdInfo': {'id': 'AD202'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Confirmed 22q.11.2 deletion/duplication'}, {'label': 'Suspected 22q.11.2 deletion/duplication'}]}, 'contactsLocationsModule': {'locations': [{'zip': '1020', 'city': 'Brussles', 'country': 'Belgium', 'facility': 'The Fetal Medicine Foundation Belgium'}], 'overallOfficials': [{'name': 'Frank Ong, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Roche Sequencing Solutions'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Cindy Cisneros', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'CRA', 'investigatorFullName': 'Cindy Cisneros', 'investigatorAffiliation': 'Roche Sequencing Solutions'}}}}