Clinical Trials

29 trials
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NCT06573723 2026-01-14

Institutional Registry of Rare Diseases

Hospital Italiano de Buenos Aires

Recruiting
380 enrolled
CNSDermatologicEndocrineMyeloidPlasma cell

Immunoglobulin G4-Related Disease, Adrenal Hyperplasia, Congenital, Amyloidosis, Cardiomyopathy, Hypertrophic, Cushing Syndrome, Demyelinating Diseases, Gaucher Disease, Hepatolenticular Degeneration, von Hippel-Lindau Disease, Hirschsprung Disease, Hypertension, Pulmonary, Mastocytosis, Metabolism, Inborn Errors, Multiple Endocrine Neoplasia, Paraganglioma, Pheochromocytoma, Prader-Willi Syndrome, Sarcoidosis, Telangiectasia, Hereditary Hemorrhagic, Inflammatory Bowel Diseases, Neurocutaneous Syndromes, Rare Diseases, Vascular Malformations, Angioedemas, Hereditary, Eosinophilic Esophagitis

NCT01793168 2025-05-29

CoRDS

Sanford Health

Recruiting
20,000 enrolled
Classical hematologyDermatologicEndocrineGastrointestinalHead & NeckMyeloidSarcoma

Leukoencephalopathy Brain Calcifications and Cysts, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Recurrent respiratory papillomatosis, Cerebellar ataxia ectodermal dysplasia, CAPOS syndrome, Chromosome 1p36 Deletion Syndrome, Ataxia with vitamin E deficiency, Chronic recurrent multifocal osteomyelitis, Episodic Ataxia, Type 2, Harding ataxia, Axenfeld-Rieger syndrome, Emanuel syndrome, Erythrokeratodermia with ataxia, Eosinophilic enteropathy, Achalasia Addisonianism Alacrimia syndrome, Maternally Inherited Leigh Syndrome, Nicolaides Baraitser syndrome, Trimethylaminuria, Warburg Sjo Fledelius syndrome, Spastic ataxia Charlevoix-Saguenay type, Turcot syndrome, KBG syndrome, Spinocerebellar ataxia 13, Spinocerebellar ataxia 14, Sensorimotor neuropathy with ataxia, autosomal dominant, Spinocerebellar ataxia 20, Spinocerebellar ataxia 21, Spinocerebellar ataxia 23, Spinocerebellar ataxia 25, Spinocerebellar ataxia 26, Spinocerebellar ataxia 27, Spinocerebellar ataxia 28, Sacral defect and anterior sacral meningocele, Spinocerebellar ataxia 8, Spinocerebellar ataxia, autosomal recessive 1, Spinocerebellar ataxia, autosomal recessive 3, Spinocerebellar ataxia, X-linked, 3, Spinocerebellar ataxia, X-linked, 4, Neuropathy ataxia and retinitis pigmentosa, Pitt-Hopkins syndrome, Bohring syndrome, Stickler syndrome, type 1, Stickler syndrome, type 2, Jansen type metaphyseal chondrodysplasia, Growth mental deficiency syndrome of Myhre, Kabuki syndrome, Laryngeal papillomatosis, Peters anomaly, Early-onset ataxia with oculomotor apraxia and hypoalbuminemia, Sucrase-isomaltase deficiency, congenital, Blau syndrome, Acrodysostosis, Cataract ataxia deafness, Potocki-Shaffer syndrome, Hypophosphatasia, Childhood, Hypophosphatasia, Adult, Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Episodic Ataxia, Type 1, Cerebellar Ataxia, Cayman Type, Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia, Olivopontocerebellar Atrophy V, Myoclonus, Cerebellar Ataxia, and Deafness, Spinocerebellar Ataxia, Autosomal Recessive 7, Fragile X Tremor Ataxia Syndrome, Odontohypophosphatasia, Spinocerebellar Ataxia with Epilepsy, Spinocerebellar Ataxia 15, Episodic Ataxia, Type 3, Episodic Ataxia, Type 4, Spastic Ataxia, Spinocerebellar Ataxia, Autosomal Recessive 8, Dimethylglycine Dehydrogenase Deficiency, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Cystinosis, Infantile Nephropathic, 3-Methylglutaconic Aciduria, Type V, Spinocerebellar Ataxia 11, Ataxia Telangiectasia Like Disorder, Spinocerebellar Ataxia 12, Cerebellar Ataxia and Hypogonadotropic Hypogonadism, Spinocerebellar Ataxia 31, Brachydactyly-Nystagmus-Cerebellar Ataxia, Ataxia, Spastic, with Congenital Miosis, Aniridia and Absent Patella, Hereditary Myopathy with Early Respiratory Failure, Episodic Ataxia, Type 5, Sacral Agenesis Syndrome, Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia, Ataxia-Telangiectasia Variant, Spinocerebellar Ataxia 10, Ataxia, Spastic, 3, Autosomal Recessive, Multiple Endocrine Neoplasia, Type IV, Hypophosphatasia, Perinatal Lethal, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract, Episodic Ataxia, Type 6, Episodic Ataxia, Type 7, Spinocerebellar ataxia 30, Ataxia Neuropathy Spectrum, Hereditary Sensory and Autonomic Neuropathy Type Ie, Cauda Equina Syndrome, Olivary Degeneration, Addison Disease, Ataxia, Ataxia Telangiectasia, Beckwith-Wiedemann Syndrome, Biliary Atresia, Cockayne Syndrome, Cystinosis, De Lange Syndrome, Deafness, Esophageal Achalasia, Friedreich Ataxia, Glycogen Storage Disease, Halitosis, Hirschsprung Disease, Disorders of Excessive Somnolence, Hypophosphatasia, Infections, Intestinal Pseudo-Obstruction, Klippel-Feil Syndrome, Leigh Disease, Leiomyosarcoma, Leukodystrophy, Metachromatic, Liver Cirrhosis, Biliary, Lyme Disease, Meningitis, Viral, Moyamoya Disease, Mucocutaneous Lymph Node Syndrome, Mucolipidoses, Muscle Spasticity, Myasthenia Gravis, Myoclonus, Narcolepsy, Multiple Endocrine Neoplasia, Neuronal Ceroid-Lipofuscinoses, Hereditary Sensory and Autonomic Neuropathies, Oculocerebrorenal Syndrome, Hyperacusis, Rectal Fistula, Refsum Disease, Retinitis Pigmentosa, Scheuermann Disease, Short Bowel Syndrome, Spinocerebellar Degenerations, Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Lambert-Eaton Myasthenic Syndrome, Aniridia, Alagille Syndrome, Kleine-Levin Syndrome, WAGR Syndrome, Machado-Joseph Disease, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Multiple Endocrine Neoplasia Type 2b, Williams Syndrome, Multiple System Atrophy, Hyperglycinemia, Nonketotic, Hyperargininemia, Idiopathic Hypersomnia, Amnesia, Transient Global, Spinocerebellar Ataxias, Myasthenia Gravis, Neonatal, Mitochondrial Diseases, Optic Atrophy, Autosomal Dominant, Denys-Drash Syndrome, Rare Diseases, Coffin-Lowry Syndrome, Muscular Dystrophy, Oculopharyngeal, beta-Mannosidosis, Scleroderma, Diffuse, Lymphohistiocytosis, Hemophagocytic, Frasier Syndrome, Wolf-Hirschhorn Syndrome, Bulbo-Spinal Atrophy, X-Linked, Alstrom Syndrome, Leber Congenital Amaurosis, Frontotemporal Dementia, Neglected Diseases, Atypical Hemolytic Uremic Syndrome

NCT04880356 2024-11-19

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Recruiting
100 enrolled

2-Hydroxyglutaricaciduria, Fahr's disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Methylmalonic acidemia with homocystinuria, Undiagnosed Diseases, Adrenoleukodystrophy, Cysts, Hepatolenticular Degeneration, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Metabolic Diseases, Nervous System Diseases, Sphingolipidoses, Xanthomatosis, Cerebrotendinous, Pelizaeus-Merzbacher Disease, Genetic Diseases, Inborn, Rare Diseases, Alexander Disease, Leukoencephalopathies

NCT06539169 2024-11-14

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

xCures

Recruiting
1,000 enrolled
Classical hematologyOtherPlasma cell

Alzheimer Disease, Amyloidosis, Amyotrophic Lateral Sclerosis, Anemia, Sickle Cell, Cystic Fibrosis, Ehlers-Danlos Syndrome, Gaucher Disease, Glycogen Storage Disease Type II, Huntington Disease, Myasthenia Gravis, Gangliosidosis, GM1, alpha-Thalassemia, beta-Thalassemia, Muscular Dystrophy, Duchenne, Insomnia, Fatal Familial, Rare Diseases

NCT00005900 2005-06-24

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

Office of Rare Diseases (ORD)

Unknown
10 enrolled

Adrenoleukodystrophy, Fucosidosis, Gaucher Disease, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Mucopolysaccharidosis I, Metabolism, Inborn Errors, Mucolipidoses, Mucopolysaccharidoses, Mucopolysaccharidosis VI, Niemann-Pick Diseases, Sphingolipidoses, Wolman Disease, Genetic Diseases, Inborn, Rare Diseases, Mannosidase Deficiency Diseases