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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Clinical Genetics Branch Eligibility Screening SurveyAbnormalities, Multiple, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Costello syndrome, Craniofacial Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Legius syndrome, Li-Fraumeni syndrome, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, anemia, aplastic anemia, bone marrow disorder, cardiofaciocutaneous syndrome, chordoma, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, inherited aplastic anemia, lung neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mixed neoplasm, musculoskeletal system disorder, neoplasm, neuroendocrine neoplasm, primitive neuroectodermal tumor, pulmonary blastoma, respiratory tract neoplasm, skin disorder, skin neoplasm, susceptibility to familial cutaneous melanomaNot yet recruitingNot stated2026-10-09NCT07005297
CfDNA in Hereditary And High-risk Malignancies 2Adnexal Diseases, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Li-Fraumeni syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Urogenital Diseases, Urogenital Neoplasms, breast disorder, breast neoplasm, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, female reproductive system disorder, female reproductive system neoplasm, gastric neoplasm, gonadal disorder, hereditary breast ovarian cancer syndrome, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, malignant endocrine neoplasm, metabolic disease, neoplasm, ovarian cancer, ovarian disorder, skin disorder, stomach disorderRecruitingNot stated2026-10-08NCT06726642
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation DisordersCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, common variable immunodeficiency, hereditary disease, immune system disorder, inborn error of immunity, metabolic disease, severe combined immunodeficiencyEnrolling by invitationNot stated2026-10-08NCT00895271
Cancer in Inherited Bone Marrow Failure SyndromesBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Shwachman-Diamond syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, exocrine pancreatic insufficiency, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, lipomatosis, metabolic disease, pancreas disorder, pure red-cell aplasia, skin disorderRecruitingNot stated2026-10-08NCT00027274
Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic CounselingCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasmRecruitingNot stated2026-10-07NCT05126810
Men at High Genetic Risk for Prostate CancerColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Genital Diseases, Male Urogenital Diseases, Neoplasms by Site, Nutritional and Metabolic Diseases, Urogenital Diseases, Urogenital Neoplasms, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, male reproductive organ cancer, male reproductive system disorder, metabolic disease, neoplasm, prostate cancer, prostate disorderRecruitingNot stated2026-10-07NCT03805919
Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome FamiliesColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Lynch syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, familial ovarian carcinoma, hereditary breast carcinoma, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasmActive, not recruitingNot applicable2026-10-06NCT04125914
Phase 2, Open-Label Study to Evaluate the Safety and Tolerability of Progerinin in Werner SyndromeCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Nutritional and Metabolic Diseases, Werner syndrome, hereditary disease, metabolic diseaseRecruitingPhase 22026-10-05NCT05847179
Experience and Management of Cancer Screening-Related Anxiety in Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, neoplasmActive, not recruitingNot stated2026-10-02NCT06744283
Clinical and Genetic Studies of Li-Fraumeni SyndromeCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasmRecruitingNot stated2026-10-02NCT01443468
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular SystemArterial Occlusive Diseases, Body Weight, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, arteriosclerosis disorder, atherosclerosis, cardiomyopathy, cardiovascular disorder, heart disorder, hereditary disease, hereditary neoplastic syndrome, inflammatory disease, metabolic disease, neoplasm, nutritional disorder, obesity disorder, overnutrition, vascular disorderRecruitingNot stated2026-10-02NCT01143454
Defining the Natural History of Squamous Cell Carcinoma in Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseRecruitingNot stated2026-10-01NCT05687149
Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch RepairColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Lynch syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, colon adenocarcinoma, colonic disorder, colonic neoplasm, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasmActive, not recruitingPhase 32026-10-01NCT02912559
Genetic Basis of ImmunodeficiencyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, hereditary disease, immune system disorder, inborn error of immunity, metabolic disease, severe combined immunodeficiencyRecruitingNot stated2026-09-28NCT00055172
Liquid Biopsy Evaluation and Repository Development at Princess MargaretAdnexal Diseases, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Lynch syndrome, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, benign urinary system neoplasm, breast cancer, breast disorder, breast neoplasm, cancer, central nervous system cancer, colonic disorder, colonic neoplasm, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, female reproductive system disorder, female reproductive system neoplasm, gonadal disorder, hamartoma, head and neck cancer, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, intestinal disorder, kidney cancer, kidney disorder, leukemia, lung cancer, lung disorder, lung neoplasm, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, malignant colon neoplasm, malignant endocrine neoplasm, melanocytic neoplasm, melanoma, meningioma, metabolic disease, neoplasm, nervous system disorder, neuroendocrine neoplasm, ovarian cancer, ovarian disorder, plasma cell neoplasm, primitive neuroectodermal tumor, respiratory system disorder, respiratory tract neoplasm, skin disorder, skin neoplasm, tumor of meninges, urinary system disorder, uterine cancer, uterine disorder, vascular cancerRecruitingNot stated2026-09-25NCT03702309
A Study to Evaluate the Efficacy of VVD-133214 in Combination With Pembrolizumab Compared With Pembrolizumab Alone in Participants With Advanced Cancer of the Colon or RectumColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Site, Nutritional and Metabolic Diseases, colonic disorder, colorectal adenocarcinoma, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasmRecruitingPhase 22026-09-16NCT07811193
Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) InterventionAdnexal Diseases, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Lynch syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Urogenital Diseases, Urogenital Neoplasms, breast cancer, breast disorder, breast neoplasm, colonic disorder, colonic neoplasm, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, endometrium neoplasm, female reproductive organ cancer, female reproductive system disorder, female reproductive system neoplasm, gonadal disorder, hereditary breast ovarian cancer syndrome, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, malignant colon neoplasm, malignant endocrine neoplasm, malignant pancreatic neoplasm, metabolic disease, neoplasm, ovarian cancer, ovarian disorder, pancreas disorder, pancreatic neoplasm, skin disorder, uterine cancer, uterine disorderActive, not recruitingNot applicable2026-09-16NCT05677048
Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, graft versus host disease, hereditary disease, immune system disorder, inborn error of immunity, metabolic disease, severe combined immunodeficiencyActive, not recruitingPhase 1 / Phase 22026-09-16NCT03597594
Eltrombopag for Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Inflammation, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, pancytopeniaActive, not recruitingPhase 22026-09-16NCT03206086
Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family MembersAdnexal Diseases, B-cell chronic lymphocytic leukemia, Body Weight, Chronic Disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Fatigue, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Hemic and Lymphatic Diseases, Leukemia, B-Cell, Lynch syndrome, Neoplasms by Histologic Type, Neoplasms by Site, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin and Connective Tissue Diseases, Urogenital Diseases, Urogenital Neoplasms, breast carcinoma, breast disorder, breast neoplasm, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, female reproductive system disorder, female reproductive system neoplasm, gonadal disorder, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, intestinal disorder, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoproliferative syndrome, malignant endocrine neoplasm, metabolic disease, neoplasm, nutritional disorder, ovarian cancer, ovarian carcinoma, ovarian disorder, overnutrition, skin disorderActive, not recruitingNot applicable2026-09-16NCT02194387
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel TherapeuticsChronic Disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cronkhite-Canada syndrome, Cysts, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Dyskinesias, Familial Atypical Multiple Mole-Melanoma, Hyperpigmentation, Lynch syndrome, Melanosis, Neoplasms by Histologic Type, Neoplasms by Site, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pancreatic Cyst, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peutz-Jeghers syndrome, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Spinocerebellar Ataxias, atactic disorder, non-human animal, ataxia telangiectasia, brain disorder, cardiovascular disorder, central nervous system disorder, cerebellar ataxia, cerebellar disorder, chronic pancreatitis, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, immune system disorder, inborn error of immunity, intestinal disorder, lentigo, melanocytic neoplasm, melanocytic nevus, melanoma, cutaneous malignant, susceptibility to, 2, metabolic disease, neoplasm, nervous system disorder, neurocutaneous syndrome, pancreas disorder, pancreatic ductal adenocarcinoma, pancreatitis, skin disorder, skin pigmentation disorder, telangiectasis, vascular disorderActive, not recruitingNot stated2026-09-15NCT05692596
Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral CancerBone Marrow Failure Disorders, Chemically-Induced Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Erythroplasia, Fanconi anemia, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Lichenoid Eruptions, Mouth Neoplasms, Neoplasms by Site, Nutritional and Metabolic Diseases, Skin Diseases, Papulosquamous, Skin and Connective Tissue Diseases, Stomatognathic Diseases, anemia, aplastic anemia, bone marrow disorder, erythroplakia, hematologic disorder, hereditary disease, hereditary mucosal leukokeratosis, hereditary skin disorder, inherited aplastic anemia, lichen planus, metabolic disease, mouth disorder, neoplasm, nicotine dependence, precancerous condition, psychiatric disorder, skin disorder, substance-related disorderActive, not recruitingNot applicable2026-09-14NCT00542373
Li-Fraumeni Syndrome/TP53 BiobankCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Li-fraumeni-like syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasmRecruitingNot stated2026-09-04NCT04367246
Assessing Uterine Cancer Risk in Lynch Syndrome Carriers Using Vaginal Self-sampling and a Health QuestionnaireColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Lynch syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, Urogenital Diseases, Urogenital Neoplasms, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endometrium neoplasm, female reproductive system disorder, female reproductive system neoplasm, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasm, uterine disorderRecruitingNot applicable2026-09-03NCT07194551
Overcoming Barriers to Uptake of Cascade ScreeningColorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Lynch syndrome, Neoplasms by Site, Nutritional and Metabolic Diseases, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasmNot yet recruitingNot applicable2026-08-26NCT07304063