Status | Study |
Completed |
Study Name: EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Condition: Methylmalonic Aciduria and Homocystinuria,Cblc Type Genetic Disease Date: 2013-02-08 Interventions: Drug: Epi-743 EPI- 743 in caps |
Completed |
Study Name: A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies Condition: Molybdenum Cofactor Deficiency Isolated Sulfite Oxidase Deficiency Date: 2012-11-26 |
Terminated |
Study Name: Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Condition: Propionic Acidemia Methylmalonic Acidemia Date: 2012-05-10 Interventions: Drug: N-carbamylglutamate |
Active, not recruiting |
Study Name: Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Condition: Alkaptonuria Date: 2011-07-05 Interventions: Drug: Nitisinone Taken orally. Supplied as a 2mg tablet. The starting dose is 2 mg once daily. |
Suspended |
Study Name: Ataluren for Nonsense Mutation Methylmalonic Acidemia Condition: Amino Acid Metabolism, Inborn Errors Date: 2010-06-07 Interventions: Drug: Ataluren (PTC124) Ataluren (PTC124) will be provided as a vanilla-flavored powder to be mixed with |
Completed |
Study Name: Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Condition: Argininosuccinic Aciduria Amino Acid Metabolism, Inborn Errors Date: 2006-06-26 Interventions: Drug: Sodium Phenylbutyrate No |
Completed |
Study Name: PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Condition: Succinic Semialdehyde Dehydrogenase Deficiency SSADH Deficiency Date: 2005-10-29 |
Recruiting |
Study Name: Longitudinal Study of Urea Cycle Disorders Condition: Brain Diseases, Metabolic, Inborn Amino Acid Metabolism, Inborn Errors Date: 2005-10-10 |
Completed |
Study Name: Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency Condition: Succinic Semialdehyde Dehydrogenase Deficiency Diseases Date: 2005-08-18 |
Completed |
Study Name: Long-Term Study of Nitisinone to Treat Alkaptonuria Condition: Alkaptonuria Date: 2005-04-07 Interventions: Drug: Nitisinone (NTBC) Treatment Other Name: Orfadi |