Kufor-Rakeb syndrome

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Trial	Conditions	Status	Phase	Updated	More info	NCT ID
TIRCON International NBIA Registry	Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Familial apoceruloplasmin deficiency, Kufor-Rakeb syndrome, Woodhouse-Sakati syndrome, aceruloplasminemia, basal ganglia disorder, brain disorder, central nervous system disorder, fatty acid hydroxylase-associated neurodegeneration, hereditary disease, inherited neurodegenerative disorder, movement disorder, nervous system disorder, neuroaxonal dystrophy, neurodegeneration with brain iron accumulation, neurodegenerative disease, neuroferritinopathy, pantothenate kinase-associated neurodegeneration	Recruiting	Not stated	2025-06-05		NCT05522374
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database	Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Kufor-Rakeb syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, neurodegenerative disease, neuronal ceroid lipofuscinosis 1, neuronal ceroid lipofuscinosis 5, parkinsonism due to ATP13A2 deficiency, progressive myoclonic epilepsy type 3	Recruiting	Not stated	2021-10-29		NCT04613089

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