purine nucleoside phosphorylase deficiency | ClinicalTrials HQ

View definition

2 results · Page 1 of 1

Swipe the table sideways for more columns.

Trial	Conditions	Status	Phase	Updated	More info	NCT ID
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders	Arts 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 I	Recruiting	Not stated	2026-08-19		NCT06092346
Longitudinal Study of Neurodegenerative Disorders	Bone 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, sphingolipidosis	Recruiting	Not stated	2026-02-09		NCT03333200