Clinical Trials

13 trials
RecentStart dateEnrollment
Observational × Genetic Diseases, Inborn × Clear all
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

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