Ignite Creation Date:
2025-12-26 @ 10:46 PM
Ignite Modification Date:
2025-12-26 @ 10:46 PM
Study NCT ID:
NCT03124212
Status:
RECRUITING
Last Update Posted:
2025-02-14
First Post:
2017-04-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D061325', 'term': 'Hereditary Breast and Ovarian Cancer Syndrome'}, {'id': 'D003123', 'term': 'Colorectal Neoplasms, Hereditary Nonpolyposis'}], 'ancestors': [{'id': 'D001943', 'term': 'Breast Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D010051', 'term': 'Ovarian Neoplasms'}, {'id': 'D004701', 'term': 'Endocrine Gland Neoplasms'}, {'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}, {'id': 'D010049', 'term': 'Ovarian Diseases'}, {'id': 'D000291', 'term': 'Adnexal Diseases'}, {'id': 'D005831', 'term': 'Genital Diseases, Female'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D005833', 'term': 'Genital Neoplasms, Female'}, {'id': 'D014565', 'term': 'Urogenital Neoplasms'}, {'id': 'D000091662', 'term': 'Genital Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D001941', 'term': 'Breast Diseases'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D006058', 'term': 'Gonadal Disorders'}, {'id': 'D015179', 'term': 'Colorectal Neoplasms'}, {'id': 'D007414', 'term': 'Intestinal Neoplasms'}, {'id': 'D005770', 'term': 'Gastrointestinal Neoplasms'}, {'id': 'D004067', 'term': 'Digestive System Neoplasms'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D003108', 'term': 'Colonic Diseases'}, {'id': 'D007410', 'term': 'Intestinal Diseases'}, {'id': 'D049914', 'term': 'DNA Repair-Deficiency Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 700}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-04-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-12', 'completionDateStruct': {'date': '2027-09-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-12', 'studyFirstSubmitDate': '2017-04-10', 'studyFirstSubmitQcDate': '2017-04-18', 'lastUpdatePostDateStruct': {'date': '2025-02-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-04-21', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-07-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Establishing the CASCADE Cohort', 'timeFrame': '12 months', 'description': 'Response rate for Index Patients with HBOC and LS and blood relatives'}], 'secondaryOutcomes': [{'measure': 'Cancer Surveillance', 'timeFrame': '12 months', 'description': 'Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['mutation carrier', 'blood relative', 'genetic testing', 'family-based cohort'], 'conditions': ['Hereditary Breast and Ovarian Cancer', 'Lynch Syndrome']}, 'referencesModule': {'references': [{'pmid': '28931501', 'type': 'BACKGROUND', 'citation': 'Katapodi MC, Viassolo V, Caiata-Zufferey M, Nikolaidis C, Buhrer-Landolt R, Buerki N, Graffeo R, Horvath HC, Kurzeder C, Rabaglio M, Scharfe M, Urech C, Erlanger TE, Probst-Hensch N, Heinimann K, Heinzelmann-Schwarz V, Pagani O, Chappuis PO. Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol. JMIR Res Protoc. 2017 Sep 20;6(9):e184. doi: 10.2196/resprot.8138.'}, {'pmid': '30695780', 'type': 'BACKGROUND', 'citation': 'Nikolaidis C, Ming C, Pedrazzani C, van der Horst T, Kaiser-Grolimund A, Ademi Z, Buhrer-Landolt R, Burki N, Caiata-Zufferey M, Champion V, Chappuis PO, Kohler C, Erlanger TE, Graffeo R, Hampel H, Heinimann K, Heinzelmann-Schwarz V, Kurzeder C, Monnerat C, Northouse LL, Pagani O, Probst-Hensch N, Rabaglio M, Schoenau E, Sijbrands EJG, Taborelli M, Urech C, Viassolo V, Wieser S, Katapodi MC; for the CASCADE Consortium. Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop. Public Health Genomics. 2018;21(3-4):121-132. doi: 10.1159/000496495. Epub 2019 Jan 29.'}], 'seeAlsoLinks': [{'url': 'https://swisscascade.ch/en/', 'label': 'CASCADE website'}]}, 'descriptionModule': {'briefSummary': 'Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland and affect more than 12,000 individuals annually. Several hundred of these patients are likely to carry known genetic mutations associated with HBOC or LS. Genetic testing for hereditary susceptibility to cancer can prevent many cancer deaths through early identification and engagement in high-risk management care that involves intensive surveillance, chemoprevention and/or prophylactic surgery. However, current rates of genetic testing indicate that many Swiss mutation carriers and their family members do not use cancer genetic services (counseling and/or testing), either due to lack of coordination of care or due to lack of communication about the mutation among family members.\n\nCascade screening identifies and tests family members of a known mutation carrier. It determines whether asymptomatic family members are carriers of the identified mutation and proposes management options to reduce harmful outcomes. Robust evidence of basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for HBOC and LS. However, translation of this knowledge into public health interventions is lacking.\n\nSpecific Aims of the CASCADE study are:\n\n1. Survey Index Patients diagnosed with HBOC or LS from clinic-based genetic testing records and determine their cancer status and surveillance practices; needs for coordination of medical care; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to serve as advocates for cancer genetic services for blood relatives.\n2. Survey first- and second-degree relatives, and first cousins identified from pedigrees and/or family history records of HBOC and LS Index Patients and determine their cancer and mutation status; cancer surveillance practices; needs for coordination of medical care; barriers and facilitators to using cancer genetic services; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to participate in a study designed to increase use of cancer genetic services.\n3. Explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and blood relatives.', 'detailedDescription': 'Please see study protocol provided in the references'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Carrier of a mutation associated with HBOC or LS\n2. Have at least one living blood relative\n3. Men and women\n4. 18 years old and older\n5. Mentally and physically able to provide informed consent\n6. Can read and speak German or French or Italian or English\n7. Currently living in Switzerland.\n\nExclusion Criteria:\n\n1. Carriers of unclassified variants (VUS) in BRCA1, BRCA2 or MLH1, MSH2, MSH6, PMS2, EPCAM genes\n2. Not living in Switzerland\n3. Patients who are critically ill and cannot complete the CASCADE survey\n4. Participants who are institutionalized (e.g., nursing homes) or incarcerated'}, 'identificationModule': {'nctId': 'NCT03124212', 'acronym': 'CASCADE', 'briefTitle': 'Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland', 'organization': {'class': 'OTHER', 'fullName': 'University of Basel'}, 'officialTitle': 'Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland', 'orgStudyIdInfo': {'id': '2016-02052'}}, 'armsInterventionsModule': {'interventions': [{'name': 'CASCADE genetic screening', 'type': 'OTHER', 'description': 'Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives'}]}, 'contactsLocationsModule': {'locations': [{'zip': '1752', 'city': 'Fribourg', 'state': 'Canton of Fribourg', 'status': 'NOT_YET_RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Souria Aissaoui, PhD', 'role': 'CONTACT', 'email': 'souria.aissaoui@genesupport.ch', 'phone': '+4126306455070'}, {'name': 'Souria Aissaoui, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'HFR Fribourg - Hôpital Cantonal', 'geoPoint': {'lat': 46.80237, 'lon': 7.15128}}, {'zip': '1224', 'city': 'Geneva', 'state': 'Canton of Geneva', 'status': 'NOT_YET_RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Souria Aissaoui, PhD', 'role': 'CONTACT', 'email': 'Souria.aissaoui@genesupport.ch', 'phone': '+41228071770'}, {'name': 'Souria Aissaoui, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Hirslanden Clinic Des Grangettes', 'geoPoint': {'lat': 46.20222, 'lon': 6.14569}}, {'zip': '2800', 'city': 'Delémont', 'state': 'Canton of Jura', 'status': 'RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Christian Monnerat, MD', 'role': 'CONTACT', 'email': 'christian.monnerat@h-ju.ch', 'phone': '+41324212887'}, {'name': 'Christian Monnerat, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Hôpital du Jura Service d'Oncologie", 'geoPoint': {'lat': 47.36493, 'lon': 7.34453}}, {'zip': '8401', 'city': 'Winterthur', 'state': 'Canton of Zurich', 'status': 'NOT_YET_RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Ursina Zuerrer-Haerdi, MD', 'role': 'CONTACT', 'email': 'ursina.zuerrer@ksw.ch', 'phone': '+41522662583'}, {'name': 'Ursina Zuerrer-Haerdi, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Katonsspital Winterthur Tumorzentrum Brustzentrum', 'geoPoint': {'lat': 47.50564, 'lon': 8.72413}}, {'zip': '4056', 'city': 'Basel', 'status': 'RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Karl Heinimann, PhD', 'role': 'CONTACT', 'email': 'Karl.Heinimann@usb.ch', 'phone': '++41612653654'}, {'name': 'Nicole Burki, MD', 'role': 'CONTACT', 'email': 'nicole.buerki@aeschenpraxis.ch', 'phone': '++41615565883'}, {'name': 'Viola Heinzelmann-Schwarz, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Karl Heinimann, PhD, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Nicole Burki, MD', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Christian Kurzeder, MD, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'University Hospital Basel', 'geoPoint': {'lat': 47.55839, 'lon': 7.57327}}, {'zip': '6962', 'city': 'Bellinzona', 'status': 'RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Olivia Pagani, MD', 'role': 'CONTACT', 'email': 'olivia.pagani@eoc.ch', 'phone': '++918118435'}, {'name': 'Rossella Graffeo, MD', 'role': 'CONTACT', 'email': 'Rossella.GraffeoGalbiati@eoc.ch', 'phone': '++918118435'}, {'name': 'Rossella Graffeo-Galbiati, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Monica Taborelli, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Istituto Oncologico della Zvizzera Italiana', 'geoPoint': {'lat': 46.19278, 'lon': 9.01703}}, {'zip': '2010', 'city': 'Bern', 'status': 'TERMINATED', 'country': 'Switzerland', 'facility': 'Gastroenterology clinic', 'geoPoint': {'lat': 46.94809, 'lon': 7.44744}}, {'zip': '3010', 'city': 'Bern', 'status': 'RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Manuela Rabaglio, MD', 'role': 'CONTACT', 'email': 'Manuela.Rabaglio@insel.ch', 'phone': '++41316324370'}, {'name': 'Amina Scherz, MD', 'role': 'CONTACT', 'email': 'Amina.Scherz@insel.ch', 'phone': '++41316324114'}, {'name': 'Manuela Rabaglio, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Amina Scherz, MD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Universitatklinik fur Medizinische Onkologie, Inselspital', 'geoPoint': {'lat': 46.94809, 'lon': 7.44744}}, {'zip': '1205', 'city': 'Geneva', 'status': 'RECRUITING', 'country': 'Switzerland', 'contacts': [{'name': 'Pierre Chappuis, MD, PhD', 'role': 'CONTACT', 'email': 'Pierre.Chappuis@hcuge.ch', 'phone': '++41223729853'}, {'name': 'Pierre O Chappuis, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Unite d'Oncogenetique et de Prevention des Cancers", 'geoPoint': {'lat': 46.20222, 'lon': 6.14569}}], 'centralContacts': [{'name': 'Maria C Katapodi, PhD', 'role': 'CONTACT', 'email': 'maria.katapodi@unibas.ch', 'phone': '++41791095163'}], 'overallOfficials': [{'name': 'Maria C Katapodi, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Basel'}]}, 'ipdSharingStatementModule': {'infoTypes': ['STUDY_PROTOCOL', 'SAP', 'ICF'], 'timeFrame': 'January 2024- December 2029', 'ipdSharing': 'YES', 'description': 'Upon request, including purpose and expected timeline, anonymized patient data will be shared', 'accessCriteria': 'Upon request - TBD'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Basel', 'class': 'OTHER'}, 'collaborators': [{'name': 'Kantonal Spital Solothurn, Olten', 'class': 'UNKNOWN'}, {'name': 'Kantonal Spital Wallis, Sion', 'class': 'UNKNOWN'}, {'name': 'Kantonal Hospital Lucerne', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor of Nursing Science', 'investigatorFullName': 'Maria Katapodi', 'investigatorAffiliation': 'University of Basel'}}}}