hamartoma
hamartoma
Explore linked clinical trials. Standard reference: MONDO:000649946 results · Page 1 of 2
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Study of Skin Tumors in Tuberous Sclerosis | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001975 | |
| Role of Genetic Factors in the Development of Lung Disease | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Fibrosis, Hemic and Lymphatic Diseases, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Infant, Newborn, Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Respiratory Hypersensitivity, Subcutaneous Emphysema, alpha 1-antitrypsin deficiency, asthma, bronchial disorder, central nervous system malformation, cerebral cortical dysplasia, cystic fibrosis, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, inherited neurodegenerative disorder, interstitial lung disease, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, obstructive lung disease, pancreas disorder, pulmonary emphysema, pulmonary fibrosis, pulmonary sarcoidosis, respiratory system disorder, sarcoidosis, tuberous sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001532 | |
| Study of the Disease Process of Lymphangioleiomyomatosis | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Malformations of Cortical Development, Group I, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, inherited neurodegenerative disorder, lung disorder, lymphangioleiomyomatosis, lymphangiomyoma, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, pleural disorder, pneumothorax, respiratory system disorder, tuberous sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001465 | |
| Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Phase 2 | 2026-10-02 | NCT05104983 | |
| ESIS in Pediatric DRE | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Drug Resistant Epilepsy, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Active, not recruiting | Not stated | 2026-10-01 | NCT05469373 | |
| Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy (RESTOR-1) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Drug Resistant Epilepsy, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis, visual epilepsy | Not yet recruiting | Phase 2 | 2026-09-29 | NCT07680322 | |
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Skin Abnormalities, Skin and Connective Tissue Diseases, Sturge-Weber syndrome, angiomatosis, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, ectodermal dysplasia syndrome, hamartoma, hemangioma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, skin disorder, tuberous sclerosis, vascular cancer, vascular disorder | Not yet recruiting | Not stated | 2026-09-28 | NCT07843823 | |
| Liquid Biopsy Evaluation and Repository Development at Princess Margaret | Adnexal 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 cancer | Recruiting | Not stated | 2026-09-25 | NCT03702309 | |
| Study of Proteus Syndrome and Related Congenital Disorders | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Proteus syndrome, bone disorder, hamartoma, hereditary endocrine growth disease, musculoskeletal system disorder, neoplasm | Recruiting | Not stated | 2026-09-22 | NCT00001403 | |
| Web Intervention for Parents of Youth With Genetic Syndromes (WINGS) | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Imprinting Disorders, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Phelan-McDermid syndrome, Rett syndrome, Sex Chromosome Disorders, X-linked disease, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, creatine transporter deficiency, fragile X syndrome, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, movement disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, partial deletion of the long arm of chromosome 15, tuberous sclerosis | Active, not recruiting | Not applicable | 2026-09-18 | NCT06139172 | |
| A Phase IV Study of Safety and Efficacy of Everolimus in Taiwanese Patients With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma (TSC-AML) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Adipose Tissue, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, angiomyolipoma, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, kidney angiomyolipoma, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Active, not recruiting | Phase 4 | 2026-09-17 | NCT05252585 | |
| PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, macrocephaly-autism syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Recruiting | Not stated | 2026-08-31 | NCT06462430 | |
| Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Fibrosis, Lennox-Gastaut syndrome, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cirrhosis of liver, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, liver disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Active, not recruiting | Phase 4 | 2026-08-26 | NCT05044819 | |
| Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis, visual epilepsy | Active, not recruiting | Phase 3 | 2026-08-21 | NCT02962414 | |
| 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 | |
| Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hemimegalencephaly, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Phase 1 / Phase 2 | 2026-08-10 | NCT07287202 | |
| Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder, tuberous sclerosis | Active, not recruiting | Not stated | 2026-08-06 | NCT02461459 | |
| Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, atrial septal defect, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Active, not recruiting | Not stated | 2026-08-06 | NCT02461446 | |
| Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Tourette syndrome, X-linked disease, anxiety, anxiety disorder, attention deficit hyperactivity disorder, inattentive type, autism, autism spectrum disorder, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, hamartoma, heart disorder, hereditary disease, hereditary neoplastic syndrome, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, oppositional defiant disorder, parathyroid gland disorder, pervasive developmental disorder, psychiatric disorder, tic disorder, tuberous sclerosis | Recruiting | Phase 2 | 2026-07-27 | NCT06081348 | |
| MK-7075 (Miransertib) in Proteus Syndrome | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Proteus syndrome, bone disorder, hamartoma, musculoskeletal system disorder, neoplasm | Active, not recruiting | Phase 2 | 2026-07-17 | NCT04316546 | |
| Parent and Infant Inter(X)Action Intervention (PIXI) | 22q11.2 deletion syndrome, Abnormalities, Multiple, Angelman syndrome, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Chronobiology Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Duchenne muscular dystrophy, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Klinefelter syndrome, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Phelan-McDermid syndrome, Prader-Willi syndrome, Rett syndrome, Sex Chromosome Disorders, Smith-Magenis syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, developmental disability, disorder of sexual differentiation, endocrine system disorder, fragile X syndrome, gonadal disorder, gonadal dysgenesis, hamartoma, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, nutritional disorder, obesity disorder, overnutrition, parathyroid gland disorder, psychiatric disorder, sex chromosome disorder of sex development, tuberous sclerosis | Enrolling by invitation | Not applicable | 2026-07-13 | NCT03836300 | |
| A Feasibility Safety Study of Benign Centrally-Located Intracranial Tumors in Pediatric and Young Adult Subjects | congenital hypothalamic hamartoma syndrome, hamartoma, neoplasm | Recruiting | Not applicable | 2026-06-29 | NCT03028246 | |
| Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) | Alport syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Chronic Disease, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Urogenital Abnormalities, Urogenital Diseases, X-linked disease, autoimmune disease, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, chronic renal failure syndrome, connective tissue disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary nephritis, immune system disorder, inborn errors of metabolism, inherited neurodegenerative disorder, kidney disorder, kidney failure, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, mouth disorder, neoplasm, nephritis, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, periodontal disorder, periodontitis, sphingolipidosis, systemic lupus erythematosus, tuberous sclerosis, urinary system disorder, vascular disorder | Recruiting | Not stated | 2026-06-26 | NCT07575347 | |
| TSC Biosample Repository and Natural History Database | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Malformations of Cortical Development, Group I, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, inherited neurodegenerative disorder, lymphangioleiomyomatosis, lymphangiomyoma, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Not stated | 2026-06-24 | NCT05676099 | |
| 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 |