Ornithine Transcarbamylase Deficiency (DBCOND0037181)

Identifiers

Synonyms

Ornithine Carbamoyltransferase Deficiency / Ornithine transcarbamoylase deficiency / Ornithine Transcarbamylase Deficiency Disease / Ornithine Transcarbamylase (OTC) Deficiency / Ornithine transcarbamylase deficiency / Disorders of ornithine metabolism / Ornithine carbamoyltransferase deficiency (disorder) / Ornithine Carbamoyltransferase Deficiency Disease

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
Phenylbutyric acid	An agent indicated for the adjunctive therapy for the management of chronic urea cycle disorders due to deficiencies in specific enzymes, including the neonatal-onset deficiency and late-onset disease with a history of hyperammonemic encephalopathy.	Aromatic-amino-acid aminotransferasetarget Histone deacetylasetarget Histone deacetylase 1target Protein kinase C alpha typetarget

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT01421888	The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity	No drug interventions	Not Available	Not Available	terminated
NCT01599286	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia	Carglumic acid	treatment	2	completed
NCT00004498	Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency	No drug interventions	treatment	1	terminated
NCT00004386	Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency	No drug interventions	treatment	1	terminated
NCT06255782	An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency (OTC-HOPE)	No drug interventions	treatment	1 / 2	active_not_recruiting
NCT04612764	Liver Disease in Urea Cycle Disorders	No drug interventions	Not Available	Not Available	recruiting
NCT05910151	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan	No drug interventions	Not Available	Not Available	recruiting
NCT04717453	Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency	No drug interventions	Not Available	Not Available	terminated
NCT04442347	Phase 1b Study to Assess Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subjects With Ornithine Transcarbamylase Deficiency	ARCT-810	treatment	1	completed
NCT06488313	A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD	ARCT-810	treatment	2	recruiting
NCT04908319	Hepatic Histopathology in Urea Cycle Disorders	No drug interventions	Not Available	Not Available	recruiting
NCT04416126	Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult Subjects	ARCT-810	treatment	1	completed
NCT03655223	Early Check: Expanded Screening in Newborns	No drug interventions	Not Available	Not Available	enrolling_by_invitation
NCT05092685	Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn	No drug interventions	treatment	1 / 2	recruiting
NCT00472732	Neurologic Injuries in Adults With Urea Cycle Disorders	No drug interventions	Not Available	Not Available	completed
NCT03767270	Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC Deficiency	MRT5201	treatment	1 / 2	withdrawn
NCT04269122	A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects	No drug interventions	Not Available	Not Available	completed
NCT05526066	Study for Adolescents and Adults With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810	ARCT-810	treatment	2	active_not_recruiting
NCT05687474	Baby Detect : Genomic Newborn Screening	No drug interventions	Not Available	Not Available	recruiting
NCT00718627	Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders	Heterologous human adult liver derived progenitor cells	treatment	2	completed
NCT01569568	Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI	No drug interventions	Not Available	Not Available	completed
NCT04909346	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease	No drug interventions	Not Available	Not Available	terminated
NCT02670889	Urease Inhibitor Drug Treatment for Urea Cycle Disorders	Acetohydroxamic acid Urea	treatment	1 / 2	not_yet_recruiting
NCT02991144	Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency	No drug interventions	treatment	1 / 2	completed
NCT03636438	Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency	No drug interventions	Not Available	Not Available	active_not_recruiting