9 results · Page 1 of 1

Swipe the table sideways for more columns.

TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic DiseaseBone Diseases, Developmental, Skin and Connective Tissue Diseases, bone disorder, connective tissue disorder, hyperostosis, musculoskeletal system disorder, osteochondrodysplasia, osteosclerosis, rheumatic disorderRecruitingNot stated2026-10-02NCT02504879
Physiotherapy and Rehabilitation in Melorheostosis: A Case ReportBone Diseases, Developmental, bone disorder, melorheostosis, musculoskeletal system disorder, osteochondrodysplasia, osteosclerosisActive, not recruitingNot applicable2026-06-26NCT07521150
Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)Bone Diseases, Developmental, bone disorder, musculoskeletal system disorder, osteochondrodysplasia, osteopetrosis, osteosclerosisRecruitingPhase 1 / Phase 22026-06-24NCT07665021
Longitudinal Study of Neurodegenerative DisordersBone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, GM2 gangliosidosis, Gangliosidoses, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant Death, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Mucopolysaccharidosis III, Neuronal Ceroid-Lipofuscinoses, Niemann-Pick disease, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pelizaeus-Merzbacher spectrum disorder, Sandhoff disease, Skin and Connective Tissue Diseases, Sudden Infant Death, Sulfatidosis, Tay-Sachs disease, X-linked disease, adrenoleukodystrophy, alpha-mannosidosis, bone disorder, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, demyelinating disease, disorder of methionine catabolism, giant axonal neuropathy 1, hereditary disease, histiocytosis, hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, leukodystrophy, leukoencephalopathy with vanishing white matter 1, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 4, mucosulfatidosis, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, osteochondrodysplasia, osteopetrosis, osteosclerosis, pantothenate kinase-associated neurodegeneration, purine nucleoside phosphorylase deficiency, sphingolipidosisRecruitingNot stated2026-02-09NCT03333200
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
MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisAbnormalities, Multiple, Adrenoleukodystrophy, Neonatal, Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hereditary Central Nervous System Demyelinating Diseases, Hurler syndrome, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Mannosidase Deficiency Diseases, Mucopolysaccharidosis I, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Peroxisomal Disorders, Refsum Disease, Infantile, Skin and Connective Tissue Diseases, Sulfatidosis, Urogenital Diseases, X-linked disease, Zellweger spectrum disorders, alpha-mannosidosis, alpha-methylacyl-CoA racemase deficiency, aspartylglucosaminuria, bone disorder, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, d-bifunctional protein deficiency, demyelinating disease, fucosidosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, kidney disorder, leukoencephalopathy, diffuse hereditary, with spheroids 1, liver disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mitochondrial neurogastrointestinal encephalomyopathy, mucopolysaccharidosis, mucopolysaccharidosis type 2, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, musculoskeletal system disorder, nervous system disorder, osteochondrodysplasia, osteopetrosis, osteosclerosis, peroxisomal acyl-CoA oxidase deficiency, sphingolipidosis, urinary system disorderActive, not recruitingPhase 22026-01-07NCT02171104
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCTBone 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, thalassemiaRecruitingPhase 22025-12-15NCT01962415
Relationship Between Circulating Sclerostin and Bone Lesions in Patients With MastocytosisBone Diseases, Developmental, Mast Cell Activation Disorders, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, bone disorder, bone resorption disease, connective tissue neoplasm, immune system disorder, lytic metastatic bone lesion, mastocytosis, musculoskeletal system disorder, neoplasm, osteochondrodysplasia, osteosclerosis, sclerosteosisRecruitingNot stated2024-06-03NCT06440148
Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell TransplantBone Diseases, Developmental, Bone Marrow Failure Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, Hemic and Lymphatic Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Primary Immunodeficiency Diseases, acute myeloid leukemia, anemia, aplastic anemia, bone disorder, bone marrow disorder, hematologic disorder, hematopoietic and lymphoid system neoplasm, hereditary disease, immune system disorder, immunoproliferative disorder, inborn error of immunity, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoma, lymphoproliferative syndrome, musculoskeletal system disorder, myelodysplastic syndrome, myeloid leukemia, neoplasm, osteochondrodysplasia, osteopetrosis, osteosclerosisActive, not recruitingPhase 1 / Phase 22022-07-12NCT03301168