Recruiting Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases. NCT04880356 Conditions 2-Hydroxyglutaricaciduria, Adrenal Gland Diseases, Adrenal Insufficiency, +58 more Locations Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Milano, Italy View Trial Details
Completed EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment NCT01793090 Conditions Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Genetic Disease, +5 more Locations Bambino Gesù Hospital and Research Institute — Rome, Italy View Trial Details
Active, Not Recruiting Early Check: Expanded Screening in Newborns NCT03655223 Conditions 17 Alpha-Hydroxylase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, +456 more Locations RTI International — Research Triangle Park, North Carolina, United States View Trial Details
