5 results ยท Page 1 of 1

Swipe the table sideways for more columns.

TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersArts syndrome, Blood Protein Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Hemolysis, Lesch-Nyhan syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Oroticaciduria 1, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Sneddon syndrome, X-linked disease, adenine phosphoribosyltransferase deficiency, adenosine monophosphate deaminase deficiency, adenylosuccinate lyase deficiency, anemia, beta-ureidopropionase deficiency, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebrovascular disorder, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, dysgammaglobulinemia, hematologic disorder, hereditary disease, hereditary motor and sensory neuropathy, hyper-IgM syndrome, immune system disorder, inborn disorder of purine or pyrimidine metabolism, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, inosine triphosphatase deficiency, intellectual disability, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, pontocerebellar hypoplasia, postaxial acrofacial dysostosis, purine nucleoside phosphorylase deficiency, skin disorder, skin vascular disease, vascular disorder, xanthinuria type IRecruitingNot stated2026-08-19NCT06092346
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesBare Lymphocyte Syndrome, Blood Protein Disorders, Chediak-Higashi syndrome, Chronic Disease, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, Disease Attributes, Eye Diseases, Hereditary, Griscelli syndrome, Hemic and Lymphatic Diseases, Histiocytosis, Langerhans-Cell, Infant, Newborn, Diseases, Lymphohistiocytosis, Hemophagocytic, Nutritional and Metabolic Diseases, Omenn syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Wiskott-Aldrich syndrome, X-Linked Lymphoproliferative Disorder, X-linked disease, albinism, blood coagulation disease, chronic granulomatous disease, common variable immunodeficiency, dysgammaglobulinemia, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, histiocytosis, hyper-IgM syndrome, immune system disorder, immunoproliferative disorder, inborn error of immunity, inherited blood coagulation disorder, interstitial lung disease, leukocyte disorder, leukopenia, lung disorder, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, metabolic disease, non-Langerhans cell histiocytosis, phagocyte bactericidal dysfunction, respiratory system disorder, reticular dysgenesis, severe combined immunodeficiencyActive, not recruitingNot applicable2026-06-17NCT01652092
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Cardiovascular Abnormalities, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DNA repair disease, DiGeorge syndrome, Digestive System Diseases, Disease Attributes, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Omenn syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, X-linked disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, digestive system disorder, dysgammaglobulinemia, endocrine system disorder, heart disorder, hematologic disorder, hereditary disease, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, inborn error of immunity, intestinal disorder, leukocyte disorder, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiencyRecruitingPhase 22026-05-15NCT07284641
Immune Disorder HSCT Protocol22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Bruton-type agammaglobulinemia, Cardiovascular Abnormalities, Chediak-Higashi syndrome, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, DNA repair disease, DiGeorge syndrome, Disease Attributes, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Lymphohistiocytosis, Hemophagocytic, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Wiskott-Aldrich syndrome, X-linked disease, albinism, autoimmune disease, autoimmune lymphoproliferative syndrome, blood coagulation disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, dysgammaglobulinemia, endocrine system disorder, eye disorder, heart disorder, hematologic disorder, hemorrhagic disease, hereditary disease, histiocytosis, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, immunoproliferative disorder, inborn error of immunity, inherited blood coagulation disorder, leukocyte disorder, leukopenia, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, metabolic disease, musculoskeletal system disorder, non-Langerhans cell histiocytosis, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiencyActive, not recruitingPhase 22026-02-19NCT01821781
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RICBlood Protein Disorders, Bone Diseases, Developmental, Bone Marrow Failure Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chediak-Higashi syndrome, Chronic Disease, 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 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, dysgammaglobulinemia, endocrine system disorder, eye disorder, familial hemolytic anemia, gastroenteritis, hematologic disorder, hemolytic anemia, hemorrhagic disease, hereditary disease, histiocytosis, hyper-IgM syndrome, 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, leukocyte adhesion deficiency 1, leukocyte disorder, leukopenia, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, musculoskeletal system disorder, nervous system disorder, non-Langerhans cell histiocytosis, osteochondrodysplasia, osteopetrosis, osteosclerosis, phagocyte bactericidal dysfunction, pure red-cell aplasia, rheumatic disorder, rheumatoid arthritis, severe combined immunodeficiency, sickle cell disease, sphingolipidosis, syndromic disease, thalassemiaRecruitingNot stated2026-01-13NCT04528355