Status | Study |
Active, not recruiting |
Study Name: Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Condition: Propionic Acidemia Methylmalonic Acidemia Date: 2015-04-22 Interventions: Drug: Carglumic Acid Carglumic Acid 50 mg/kg/day (twice daily) |
Enrolling by invitation |
Study Name: Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Condition: Inborn Errors of Metabolism Pregnancy Acidemias Date: 2014-12-19 |
Completed |
Study Name: EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Condition: Methylmalonic Aciduria and Homocystinuria,Cblc Type Genetic Dis Date: 2013-02-08 Interventions: Drug: Epi-743 EPI- 743 in caps |
Completed |
Study Name: Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Condition: Urea Cycle Disorders Organic Acidemias Date: 2012-06-13 Interventions: Other: Therapeutic Hypothermia |
Recruiting |
Study Name: Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Condition: Propionic Acidemia, Type I and/or Type II Methylmalonic Acidemia Date: 2012-05-11 Interventions: Drug: Carbaglu |
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 |
Withdrawn |
Study Name: Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Condition: Urea Cycle Disorders, Inborn Inborn Errors of Metabolism P Date: 2011-04-22 Interventions: Drug: N-carbamylglutamate N-carbamylglutamate: 200 mg/kg/day for 3 days, divided into 4 daily oral doses |
Active, not recruiting |
Study Name: Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Condition: Malonic Aciduria Methylmalonic Acidemia Date: 2011-02-02 |
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 |
Recruiting |
Study Name: Clinical and Laboratory Study of Methylmalonic Acidemia Condition: Amino Acid Metabolism Inborn Errors Date: 2004-02-18 |