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Completed

Evaluation of the Express Plus Range

NCT05051657

Conditions
Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +18 more
Locations
  • Royal Belfast Hospital for Sick Children Belfast, United Kingdom
  • Birmingham Women's and Children's Hospital Birmingham, United Kingdom
  • Bristol Royal Hospital for Children Bristol, United Kingdom
  • Greater Glasgow and Clyde NHS Foundation Trust Glasgow, United Kingdom
View Trial Details
Completed

Baby Detect : Genomic Newborn Screening

NCT05687474

Conditions
3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, +368 more
Locations
  • CRMN, Hôpital La Citadelle Liège, Wallonia, Belgium
View Trial Details
Completed

Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care

NCT02320084

Conditions
Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
Locations
  • Swedish Orphan Biovitrum Investigational Site Innsbruck, Austria
  • Swedish Orphan Biovitrum Investigational Site Vienna, Austria
  • Swedish Orphan Biovitrum Investigational Site Antwerp, Belgium
  • Swedish Orphan Biovitrum Investigational Site Brussels, Belgium
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View Trial Details
Completed

Evaluation of TYR Sphere

NCT04196959

Conditions
Alkaptonuria, Amino Acid Metabolism, Inborn Errors, Brain Diseases, +13 more
Locations
  • National Alkaptonuria Centre, Royal Liverpool University Hospital Liverpool, Merseyside, United Kingdom
  • Birmingham Children's Hospital Birmingham, West Midlands, United Kingdom
View Trial Details
Completed

Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1

NCT02323529

Conditions
Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
Locations
  • Swedish Orphan Biovitrum Investigational Site Brussels, Belgium
  • Swedish Orphan Biovitrum Investigational Site Copenhagen, Denmark
  • Swedish Orphan Biovitrum Investigational Site Lyon, France
  • Swedish Orphan Biovitrum Investigational Site Giessen, Germany
View Trial Details
Completed

Taste and Palatability of Orfadin Suspension

NCT01734889

Conditions
Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, +10 more
Locations
  • Hopital Necker Paris, France
  • Universitätsklinikum Düsseldorf Düsseldorf, Germany
  • Universitätsklinikum Heidelberg Heidelberg, Germany
  • Klinikum der Universität München München, Germany
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