albinism
albinism
Explore linked clinical trials. Standard reference: MONDO:004320921 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Analysis of Specimens From Individuals With Pulmonary Fibrosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited blood coagulation disorder, interstitial lung disease, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Active, not recruiting | Not stated | 2026-10-08 | NCT00084305 | |
| Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, digestive system disorder, eye disorder, gastroenteritis, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inflammatory bowel disease, inherited blood coagulation disorder, interstitial lung disease, intestinal disorder, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-10-08 | NCT00001456 | |
| Haloperidol For Outpatient Symptom Management in Patients Diagnosed With Cannabinoid Hyperemesis Syndrome in the Emergrency Department | Chediak-Higashi syndrome, Chemically-Induced Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Primary Immunodeficiency Diseases, albinism, cannabinoid hyperemesis syndrome, cannabis dependence, eye disorder, hematologic disorder, hereditary disease, immune system disorder, inborn error of immunity, leukocyte disorder, phagocyte bactericidal dysfunction, psychiatric disorder, substance-related disorder | Not yet recruiting | Early phase 1 | 2026-09-01 | NCT07726069 | |
| Study of Chediak-Higashi Syndrome | Chediak-Higashi syndrome, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Infections, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, immune system disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, leukocyte disorder, metabolic disease, phagocyte bactericidal dysfunction, platelet storage pool deficiency, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-08-28 | NCT00005917 | |
| Early Check: Expanded Screening in Newborns | 3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosis | Active, not recruiting | Not stated | 2026-07-01 | NCT03655223 | |
| Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies | Bare 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 immunodeficiency | Active, not recruiting | Not applicable | 2026-06-17 | NCT01652092 | |
| National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, aniridia, blue cone monochromacy, corneal disorder, corneal dystrophy, eye disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, iris disorder, macular degeneration, metabolic disease, retinal degeneration, retinal disorder, skin disorder, skin pigmentation disorder, uveal disorder, vitelliform macular dystrophy, vitiligo | Recruiting | Not stated | 2026-06-09 | NCT06491615 | |
| Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Eye Diseases, Hereditary, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, connective tissue neoplasm, digestive system disorder, digestive system neoplasm, gastrointestinal stromal tumor, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, neoplasm, piebaldism, skin disorder, skin pigmentation disorder | Recruiting | Phase 2 | 2026-04-30 | NCT07559864 | |
| Immune Disorder HSCT Protocol | 22q11.2 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 immunodeficiency | Active, not recruiting | Phase 2 | 2026-02-19 | NCT01821781 | |
| FARD (RaDiCo Cohort) (RaDiCo-FARD) | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Conjunctival Diseases, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Keratoderma, Palmoplantar, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Pemphigoid, Benign Mucous Membrane, Skin Abnormalities, Skin and Connective Tissue Diseases, albinism, autoimmune disease, ectodermal dysplasia syndrome, eye disorder, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, immune system disorder, inborn disorder of amino acid metabolism, inborn errors of metabolism, incontinentia pigmenti, inherited epidermolysis bullosa, inherited neurodegenerative disorder, keratosis, metabolic disease, mucous membrane pemphigoid, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, pemphigus, peripheral nervous system disorder, skin disorder, skin pigmentation disorder, vesiculobullous skin disease | Recruiting | Not stated | 2026-02-12 | NCT05954416 | |
| Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases. | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Eye Diseases, Hereditary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, eye disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, intellectual disability, metabolic disease, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, skin disorder, skin pigmentation disorder | Not yet recruiting | Not stated | 2026-02-10 | NCT07400913 | |
| Allergy and Immunology Natural History Study | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hypersensitivity, Immediate, Nutritional and Metabolic Diseases, Respiratory Hypersensitivity, Skin Diseases, Eczematous, Skin and Connective Tissue Diseases, albinism, anaphylaxis, angioedema, asthma, atopic eczema, autoimmune disease, bronchial disorder, cardiovascular disorder, dermatitis, food allergy, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, immune system disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, lung disorder, metabolic disease, obstructive lung disease, piebaldism, respiratory system disorder, skin disorder, skin pigmentation disorder, skin vascular disease, urticaria, vascular disorder | Recruiting | Not stated | 2026-02-04 | NCT05584488 | |
| Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC | Blood 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, thalassemia | Recruiting | Not stated | 2026-01-13 | NCT04528355 | |
| Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, eye disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, oculocutaneous albinism, skin disorder, skin pigmentation disorder | Recruiting | Early phase 1 | 2026-01-12 | NCT07313618 | |
| 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 | |
| A Study of the c-Kit Specific Antibody-Drug Conjugate NN3201 for Advanced and/or Metastatic Solid Tumors Known to Express c-Kit | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, Uveal Neoplasms, adenocarcinoma, adenoid cystic carcinoma, albinism, benign urinary system neoplasm, bronchial neoplasm, bronchogenic carcinoma, carcinoma, chromophobe renal cell carcinoma, clear cell renal carcinoma, connective tissue neoplasm, digestive system disorder, digestive system neoplasm, epithelial neoplasm, eye disorder, gastrointestinal stromal tumor, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, kidney cancer, kidney disorder, lung disorder, lung neoplasm, melanocytic neoplasm, melanoma, metabolic disease, neoplasm, neuroendocrine neoplasm, ocular cancer, piebaldism, primitive neuroectodermal tumor, renal cell carcinoma, respiratory system disorder, respiratory tract neoplasm, skin disorder, skin pigmentation disorder, small cell lung carcinoma, urinary system disorder, uveal disorder, uveal melanoma | Recruiting | Phase 1 | 2025-09-23 | NCT06805825 | |
| Peripheral Serotonin and Albinism | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Iron Deficiencies, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, anemia, eye disorder, hematologic disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, iron metabolism disease, metabolic disease, oculocutaneous albinism, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2025-09-12 | NCT06138509 | |
| Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Keratoderma, Palmoplantar, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, albinism, basal cell carcinoma, basal cell neoplasm, bone disorder, carcinoma, central nervous system malformation, cerebral cortical dysplasia, connective tissue disorder, cutis laxa, ectodermal dysplasia syndrome, epidermolysis bullosa, epithelial neoplasm, eye disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, metabolic disease, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, nevoid basal cell carcinoma syndrome, odontogenic cyst, skin disorder, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vesiculobullous skin disease | Recruiting | Not stated | 2025-05-18 | NCT06330350 | |
| Reproductive Options in Inherited Skin Diseases | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, DNA repair disease, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Keratoderma, Palmoplantar, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, albinism, basal cell carcinoma, basal cell neoplasm, bone disorder, carcinoma, central nervous system malformation, cerebral cortical dysplasia, connective tissue disorder, cutis laxa, ectodermal dysplasia syndrome, epidermolysis bullosa, epithelial neoplasm, eye disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, metabolic disease, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, nevoid basal cell carcinoma syndrome, odontogenic cyst, photosensitivity disease, precancerous condition, skin disorder, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vesiculobullous skin disease, xeroderma pigmentosum | Enrolling by invitation | Not stated | 2025-05-18 | NCT06330324 | |
| Functional Impairment in Albinism | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, eye disorder, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, ocular albinism, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2025-02-13 | NCT06345976 | |
| Preoperative Imatinib Mesylate Combined With Rectal-sparing Surgery in Patients With c-KIT Gene-mutant Rectal GIST | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Eye Diseases, Hereditary, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, albinism, connective tissue neoplasm, digestive system disorder, digestive system neoplasm, gastrointestinal stromal tumor, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, neoplasm, piebaldism, skin disorder, skin pigmentation disorder | Not yet recruiting | Phase 3 | 2023-08-01 | NCT05970900 |