Ignite Creation Date:
2025-12-25 @ 1:27 AM
Ignite Modification Date:
2025-12-28 @ 12:12 AM
Study NCT ID:
NCT06917794
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2025-04-08
First Post:
2025-04-01
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003110', 'term': 'Colonic Neoplasms'}, {'id': 'D000096442', 'term': 'Genetic Risk Score'}], 'ancestors': [{'id': 'D015179', 'term': 'Colorectal Neoplasms'}, {'id': 'D007414', 'term': 'Intestinal Neoplasms'}, {'id': 'D005770', 'term': 'Gastrointestinal Neoplasms'}, {'id': 'D004067', 'term': 'Digestive System Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D003108', 'term': 'Colonic Diseases'}, {'id': 'D007410', 'term': 'Intestinal 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': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 500}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2025-03-14', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-04', 'completionDateStruct': {'date': '2027-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-04-01', 'studyFirstSubmitDate': '2025-04-01', 'studyFirstSubmitQcDate': '2025-04-01', 'lastUpdatePostDateStruct': {'date': '2025-04-08', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-04-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Elaboration of Poligenic Risk', 'timeFrame': '36mo', 'description': 'A germline and somatic genetic mapping in Brazilian patients with colon adenocarcinoma, including ancestry, for the development of a polygenic risk score system applicable to the Brazilian population.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Colo-rectal Cancer', 'Polygenic Risk Score', 'Somatic Mutation', 'Hereditary Cancer', 'Germline Mutations', 'Cancer Predisposition Syndrome']}, 'descriptionModule': {'briefSummary': 'Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer', 'detailedDescription': 'Colorectal cancer (CRC) is the third most common cancer diagnosed in both men and women. Approximately 70% of CRC cases originate from spontaneous point mutations in oncogenes, tumor suppressor genes, and genes related to DNA repair mechanisms (Nigin et al., 2023). The remaining 30% result from hereditary mutations, of which 5-6% involve high-penetrance genes. Genetic predisposition due to pathogenic germline variants in high-risk cancer-associated genes has been implicated in 2-8% of all CRC cases, increasing to 6-10% when considering pathogenic mutations in both high- and moderate-penetrance genes.\n\nFor individuals with certain hereditary cancer syndromes, the risk of developing colorectal cancer can reach 50-80% in the absence of endoscopic and/or surgical intervention. Therefore, characterizing high-, moderate-, and low-penetrance genes within a population is crucial for understanding hereditary tumorigenesis and guiding more cost-effective screening strategies.\n\nGenetic studies comparing genomes from populations of different ethnic backgrounds have demonstrated that ancestry plays a significant role in genetic predisposition to CRC. Given the high level of genetic admixture in the Brazilian population, studies focused solely on populations of European ancestry fail to provide a representative model for application in highly admixed populations like Brazil.\n\nIn this context, the present study aims to utilize next-generation sequencing (NGS) in a cohort representative of the Brazilian population with CRC and controls to develop a Polygenic Risk Score (PRS). This score could impact cancer screening and prevention strategies, as well as genetic counseling for patients and their families. The hypothesis is that genetic mapping-including ancestry, germline, and tumor genetic variability-in Brazilian colorectal cancer patients will provide valuable data for developing a PRS that may eventually guide more targeted and cost-effective screening strategies for our population.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'genderBased': False, 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Of the 500 patients included, approximately 56% will be recruited from participants self-identified as brown, black, or indigenous, with the remaining percentage distributed between white and yellow. Of these individuals, at least 50% will be women, corresponding to the sex and race distribution in the Brazilian population reported in the latest IBGE census in 2022.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* \\> 18 years;\n* Histologically confirmed diagnosis of colorectal cancer;\n* Have available tumor material for somatic sequencing, obtained from biopsy or routine surgery;\n* Sign the informed consent form (ICF) for the study.\n\nExclusion Criteria:\n\n• Pregnants'}, 'identificationModule': {'nctId': 'NCT06917794', 'acronym': 'ORIGEM', 'briefTitle': 'Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project', 'organization': {'class': 'OTHER', 'fullName': "D'Or Institute for Research and Education"}, 'officialTitle': 'Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project', 'orgStudyIdInfo': {'id': '25000.130491/2023-48 - ORIGEM'}}, 'contactsLocationsModule': {'locations': [{'zip': '60135-237', 'city': 'Fortaleza', 'state': 'Ceará', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -3.71722, 'lon': -38.54306}}, {'zip': '40414-120', 'city': 'Salvador', 'state': 'Estado de Bahia', 'country': 'Brazil', 'facility': 'CPOC - Centro de Pesquisa Oncológica e Clínica, faz parte do Complexo Associação Obras Sociais lrmã Dulce (AOSID)', 'geoPoint': {'lat': -12.97563, 'lon': -38.49096}}, {'zip': '40414-120', 'city': 'Salvador', 'state': 'Estado de Bahia', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -12.97563, 'lon': -38.49096}}, {'zip': '70390-140', 'city': 'Brasília', 'state': 'Federal District', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -15.77972, 'lon': -47.92972}}, {'zip': '80420-090', 'city': 'Curitiba', 'state': 'Paraná', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -25.42778, 'lon': -49.27306}}, {'zip': '52010-010', 'city': 'Recife', 'state': 'Pernambuco', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -8.05389, 'lon': -34.88111}}, {'zip': '22281-100', 'city': 'Rio de Janeiro', 'state': 'Rio de Janeiro', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -22.90642, 'lon': -43.18223}}, {'zip': '04.501-000', 'city': 'São Paulo', 'state': 'São Paulo', 'country': 'Brazil', 'facility': "Instituto D'Or de Pesquisa e Ensino", 'geoPoint': {'lat': -23.5475, 'lon': -46.63611}}, {'zip': '05403-010', 'city': 'São Paulo', 'state': 'São Paulo', 'country': 'Brazil', 'facility': 'Instituto do Câncer do Estado de São Paulo', 'geoPoint': {'lat': -23.5475, 'lon': -46.63611}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "D'Or Institute for Research and Education", 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Doctor', 'investigatorFullName': 'Rodrigo Santa Cruz Guindalini', 'investigatorAffiliation': "D'Or Institute for Research and Education"}}}}