Ignite Creation Date:
2025-12-24 @ 9:17 PM
Ignite Modification Date:
2026-01-11 @ 10:54 PM
Study NCT ID:
NCT03688204
Status:
COMPLETED
Last Update Posted:
2022-03-07
First Post:
2018-09-20
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D001943', 'term': 'Breast Neoplasms'}, {'id': 'D000096442', 'term': 'Genetic Risk Score'}], 'ancestors': [{'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D001941', 'term': 'Breast Diseases'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D020022', 'term': 'Genetic Predisposition to Disease'}, {'id': 'D004198', 'term': 'Disease Susceptibility'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Residual specimen may be maintained for an indefinite period of time at Ambry Genetics and be available for future studies as provided for in the consent document. Future studies on identifiable specimens or data will require review by an IRB or ethics committee.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 118}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-09-21', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-03', 'completionDateStruct': {'date': '2020-11-11', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-03-04', 'studyFirstSubmitDate': '2018-09-20', 'studyFirstSubmitQcDate': '2018-09-26', 'lastUpdatePostDateStruct': {'date': '2022-03-07', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-09-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-11-11', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in Breast Cancer Risk Management Recommendations', 'timeFrame': 'First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.', 'description': 'Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Breast Cancer', 'Breast Neoplasm', 'Genetic Testing', 'Breast Cancer Risk', 'Cancer Risk', 'Risk Score', 'Genetic Risk Score', 'Polygenic Risk Score', 'Personalized Risk Score'], 'conditions': ['Breast Cancer Risk']}, 'descriptionModule': {'briefSummary': 'This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Female, age ≥ 18 years\n* Willing and able to provide meaningful informed consent\n* Willing and able to complete study procedures as described in this protocol\n* Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent\n* No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer\n* Meets Ambry criteria for clinical reporting of PRS score\n\nExclusion Criteria:\n\n* Prior germline BRCA1/2 testing\n* Not willing to receive PRS\n* Personal history of cancer, except non-melanoma skin cancer\n* Personal history of allogenic bone marrow/stem cell transplant'}, 'identificationModule': {'nctId': 'NCT03688204', 'briefTitle': 'Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer', 'organization': {'class': 'INDUSTRY', 'fullName': 'Ambry Genetics'}, 'officialTitle': 'Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception', 'orgStudyIdInfo': {'id': 'SNP-17-001'}}, 'contactsLocationsModule': {'locations': [{'zip': '91505', 'city': 'Burbank', 'state': 'California', 'country': 'United States', 'facility': 'Providence Roy and Patricia Disney Family Cancer Center', 'geoPoint': {'lat': 34.18084, 'lon': -118.30897}}, {'zip': '92868', 'city': 'Orange', 'state': 'California', 'country': 'United States', 'facility': 'St Joseph Hospital of Orange', 'geoPoint': {'lat': 33.78779, 'lon': -117.85311}}, {'zip': '25701', 'city': 'Huntington', 'state': 'West Virginia', 'country': 'United States', 'facility': 'Edwards Comprehensive Cancer Center', 'geoPoint': {'lat': 38.41925, 'lon': -82.44515}}], 'overallOfficials': [{'name': 'Brigette Tippin-Davis, PhD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Ambry Genetics'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Ambry Genetics', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}