Li-Fraumeni syndrome
Li-Fraumeni syndrome
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Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Clinical Genetics Branch Eligibility Screening Survey | Abnormalities, 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 melanoma | Not yet recruiting | Not stated | 2026-10-09 | NCT07005297 | |
| CfDNA in Hereditary And High-risk Malignancies 2 | Adnexal 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 disorder | Recruiting | Not stated | 2026-10-08 | NCT06726642 | |
| Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Recruiting | Not stated | 2026-10-07 | NCT05126810 | |
| Clinical and Genetic Studies of Li-Fraumeni Syndrome | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Recruiting | Not stated | 2026-10-02 | NCT01443468 | |
| Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System | Arterial 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 disorder | Recruiting | Not stated | 2026-10-02 | NCT01143454 | |
| Li-Fraumeni Syndrome/TP53 Biobank | Congenital, 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, neoplasm | Recruiting | Not stated | 2026-09-04 | NCT04367246 | |
| Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DNA repair disease, Li-Fraumeni syndrome, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, hamartoma, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Recruiting | Not stated | 2026-08-18 | NCT06888388 | |
| Familial Investigations of Childhood Cancer Predisposition | Abnormalities, Multiple, Adenomatous Polyps, Adnexal Diseases, Bone Diseases, Developmental, Bone Marrow Failure Disorders, Cardiovascular Abnormalities, Carney complex, Ciliopathies, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Cronkhite-Canada syndrome, Cysts, DICER1-related tumor predisposition, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Ear Diseases, Eye Diseases, Hereditary, Fanconi anemia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, GATA2 deficiency with susceptibility to MDS/AML, Genital Diseases, Hemic and Lymphatic Diseases, Hodgkins lymphoma, Hyperpigmentation, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Li-Fraumeni syndrome, Lynch syndrome, Malformations of Cortical Development, Group I, Melanosis, Musculoskeletal Abnormalities, Myosarcoma, NF2-related schwannomatosis, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neuroectodermal Tumors, Primitive, Neuroectodermal Tumors, Primitive, Peripheral, Noonan syndrome, Nutritional and Metabolic Diseases, Otorhinolaryngologic Neoplasms, PTEN hamartoma tumor syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peutz-Jeghers syndrome, Rothmund-Thomson syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, X-linked disease, acoustic neuroma, acute leukemia, acute myeloid leukemia, adenocarcinoma, adenoma, adrenal cortex disorder, adrenal cortex neoplasm, adrenal gland cancer, adrenal gland disorder, anemia, angiomatosis, aplastic anemia, basal cell carcinoma, basal cell neoplasm, bone disorder, bone marrow disorder, breast disorder, breast neoplasm, carcinoma, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, choroid plexus carcinoma, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, congenital heart disease, connective tissue disorder, connective tissue neoplasm, cranial nerve neoplasm, cranial nerve neuropathy, deafness-lymphedema-leukemia syndrome, digestive system disorder, digestive system neoplasm, disease susceptibility, dyskeratosis congenita, endocrine system disorder, epithelial neoplasm, eye disorder, familial rhabdoid tumor, female reproductive system disorder, female reproductive system neoplasm, gastrointestinal stromal tumor, gonadal disorder, hamartoma, heart cancer, heart disorder, hematologic disorder, hereditary Wilms tumor, hereditary breast ovarian cancer syndrome, hereditary disease, hereditary neoplastic syndrome, hereditary pheochromocytoma-paraganglioma, hereditary skin disorder, immune system disorder, immunoproliferative disorder, inherited aplastic anemia, inherited disease susceptibility, inherited neurodegenerative disorder, intestinal disorder, juvenile polyposis syndrome, lentigo, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, malignant endocrine neoplasm, malignant pancreatic neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, musculoskeletal system disorder, myelodysplastic syndrome, myomatous neoplasm, myxoma, neoplasm, nerve sheath neoplasm, nervous system disorder, neuroblastoma, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuroma, neuromuscular disease, nevoid basal cell carcinoma syndrome, non-Hodgkin lymphoma, ocular cancer, odontogenic cyst, otorhinolaryngologic disease, ovarian cancer, ovarian disorder, pancreas disorder, pancreatic neoplasm, paraganglioma, peripheral nervous system disorder, pheochromocytoma, pheochromocytoma-paraganglioma, primitive neuroectodermal tumor, pure red-cell aplasia, retinal cancer, retinal disorder, retinoblastoma, retrocochlear disease, rhabdomyosarcoma, sarcoma, schwannoma, skin disorder, skin neoplasm, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vascular disorder, vestibulocochlear nerve disorder, von Hippel-Lindau disease | Recruiting | Not stated | 2026-06-17 | NCT03050268 | |
| Li-Fraumeni Syndrome Imaging Study | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Enrolling by invitation | Not applicable | 2026-04-29 | NCT03176836 | |
| Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, clonal hematopoiesis, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Recruiting | Not stated | 2026-03-27 | NCT04541654 | |
| Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Active, not recruiting | Not applicable | 2026-01-07 | NCT02950987 | |
| Registry of Li Fraumeni and Li Fraumeni Like Syndromes | Congenital, 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, neoplasm | Recruiting | Not stated | 2025-11-20 | NCT04982744 | |
| Video Capsule Examination in Patients With Lynch Syndrome | Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Li-Fraumeni syndrome, Lynch syndrome, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hamartoma, hereditary disease, hereditary neoplastic syndrome, intestinal disorder, metabolic disease, neoplasm | Recruiting | Not applicable | 2024-12-05 | NCT06712095 | |
| Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients | Abnormalities, Multiple, Adenoma, Islet Cell, Carcinoma, Medullary, Carney complex, Carney triad, Carney-Stratakis syndrome, Ciliopathies, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DICER1-related tumor predisposition, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Li-Fraumeni syndrome, Lynch syndrome, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Ductal, Lobular, and Medullary, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Pituitary Adenoma, Familial Isolated, Pituitary Neoplasms, Skin Abnormalities, Thoracic Neoplasms, adenocarcinoma, adenoma, angiomatosis, brain disorder, carcinoma, cardiovascular disorder, central nervous system cancer, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, colonic disorder, colorectal neoplasm, connective tissue neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, epithelial neoplasm, familial isolated pituitary adenoma, gastrointestinal stromal tumor, hamartoma, heart cancer, heart disorder, hereditary disease, hereditary neoplastic syndrome, hyperparathyroidism, hypothalamic disorder, hypothalamic neoplasm, inherited neurodegenerative disorder, intestinal disorder, lung neuroendocrine neoplasm, malignant endocrine neoplasm, medullary thyroid gland carcinoma, metabolic disease, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 4, myxoma, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine carcinoma, neuroendocrine neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, pancreas disorder, pancreatic neoplasm, paraganglioma, parathyroid gland disorder, peripheral nervous system disorder, pheochromocytoma, pituitary gland disorder, primary hyperparathyroidism, primitive neuroectodermal tumor, supratentorial cancer, tuberous sclerosis, vascular disorder, von Hippel-Lindau disease | Recruiting | Not stated | 2024-07-26 | NCT06523582 | |
| Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Li-Fraumeni syndrome, Nutritional and Metabolic Diseases, childhood malignant neoplasm, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasm | Recruiting | Phase 2 | 2024-01-03 | NCT06088030 |