dyskeratosis congenita
dyskeratosis congenita
Explore linked clinical trials. Standard reference: MONDO:001578010 results ยท Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Cancer in Inherited Bone Marrow Failure Syndromes | Bone 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 disorder | Recruiting | Not stated | 2026-10-08 | NCT00027274 | |
| Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD) | Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, skin disorder | Recruiting | Phase 1 | 2026-09-10 | NCT07628972 | |
| Nucleoside Therapy in Patients With Telomere Biology Disorders | Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fibrosis, Hemic and Lymphatic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Revesz syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, interstitial lung disease, lung disorder, pulmonary fibrosis, respiratory system disorder, skin disorder | Recruiting | Phase 1 | 2026-08-04 | NCT06817590 | |
| 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 | |
| Investigation of the Genetics of Hematologic Diseases | Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Fanconi anemia, Hemic and Lymphatic Diseases, Kostmann syndrome, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, blood coagulation disease, bone marrow disorder, dyskeratosis congenita, erythrocyte disorder, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, hereditary skin disorder, inherited aplastic anemia, inherited hemoglobinopathy, leukocyte disorder, metabolic disease, myelodysplastic syndrome, pure red-cell aplasia, sickle cell disease, skin disorder | Recruiting | Not stated | 2026-06-09 | NCT02720679 | |
| Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita | Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Revesz syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, skin disorder | Active, not recruiting | Phase 2 | 2026-03-27 | NCT01659606 | |
| Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders | Bone Marrow Failure, Bone Marrow Failure Disorders, Congenital Abnormalities, 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, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, metabolic disease, myelodysplastic syndrome, skin disorder | Recruiting | Phase 2 | 2026-01-30 | NCT03579875 | |
| Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT | Bone Diseases, Developmental, Bone Marrow Failure Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chediak-Higashi syndrome, Chronic Disease, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Crohn disease, Cytopenia, DNA repair disease, Death, Death, Sudden, Diamond-Blackfan anemia, Digestive System Diseases, Disease Attributes, Eye Diseases, Hereditary, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant Death, Infant, Newborn, Diseases, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lymphohistiocytosis, Hemophagocytic, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Mucopolysaccharidosis I, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Primary Immunodeficiency Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Sudden Infant Death, Sulfatidosis, Wiskott-Aldrich syndrome, X-linked disease, adrenal gland disorder, adrenocortical insufficiency, adrenoleukodystrophy, albinism, alpha-mannosidosis, anemia, aplastic anemia, arthritic joint disease, arthropathy, autoimmune disease, autoimmune lymphoproliferative syndrome, beta thalassemia, blood coagulation disease, bone disorder, bone marrow disorder, brain disorder, central nervous system disorder, chronic granulomatous disease, connective tissue disorder, cutaneous mucinosis, demyelinating disease, digestive system disorder, disease, dyskeratosis congenita, endocrine system disorder, eye disorder, familial hemolytic anemia, gastroenteritis, hematologic disorder, hemolytic anemia, hemorrhagic disease, hereditary disease, hereditary skin disorder, histiocytosis, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, immunoproliferative disorder, inborn carbohydrate metabolic disorder, inborn error of immunity, inborn errors of metabolism, inflammatory bowel disease, inherited aplastic anemia, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, juvenile idiopathic arthritis, leukocyte adhesion deficiency 1, leukocyte disorder, leukoencephalopathy, diffuse hereditary, with spheroids 1, leukopenia, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 2, musculoskeletal system disorder, nervous system disorder, non-Langerhans cell histiocytosis, osteochondrodysplasia, osteopetrosis, osteosclerosis, phagocyte bactericidal dysfunction, pure red-cell aplasia, rheumatic disorder, severe combined immunodeficiency, sickle cell disease, skin disorder, sphingolipidosis, syndromic disease, thalassemia | Recruiting | Phase 2 | 2025-12-15 | NCT01962415 | |
| Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures | Bone Marrow Failure, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Hoyeraal-Hreidarsson syndrome, Immune Deficiency Disease, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, immune system disorder, inborn error of immunity, inherited aplastic anemia, metabolic disease, skin disorder, telomere syndrome | Recruiting | Phase 2 | 2025-11-28 | NCT04232085 | |
| Anti-cancer DC Cell Vaccination to Treat Solid Tumors | dyskeratosis congenita | Recruiting | Phase 1 | 2024-06-27 | NCT06477614 |