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Results for “Carbamyl Phosphate Synthetase Deficiency”

11 trials

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Showing 11 of 11 results

Testing effectiveness (Phase 2)Study completedNCT01599286
What this trial is testing

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

Who this might be right for
Propionic Acidemia, Type I and/or Type IIMethylmalonic AcidemiaCarbamoyl-Phosphate Synthase I Deficiency Disease+1 more
Mendel Tuchman 35
Not applicableUnknownNCT05910151
What this trial is testing

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Who this might be right for
Propionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more
West Kazakhstan Medical University 2,250
Early research (Phase 1)Ended earlyNCT01345578
What this trial is testing

Hepatocyte Transplantation for Liver Based Metabolic Disorders

Who this might be right for
Metabolic Diseases
Ira Fox 5
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Testing effectiveness (Phase 2)WithdrawnNCT01341379
What this trial is testing

Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Who this might be right for
Urea Cycle Disorders, InbornInborn Errors of MetabolismPropionic Acidemia+2 more
Children's Hospital of Philadelphia
Not applicableLooking for participantsNCT04602325
What this trial is testing

Systemic Biomarkers of Brain Injury From Hyperammonemia

Who this might be right for
Urea Cycle DisorderOrganic AcidemiaMaple Syrup Urine Disease+3 more
Children's National Research Institute 24
Not applicableEnrolling By InvitationNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableLooking for participantsNCT04908319
What this trial is testing

Hepatic Histopathology in Urea Cycle Disorders

Who this might be right for
Urea Cycle DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1+7 more
Baylor College of Medicine 70
Not applicableEnded earlyNCT01948427
What this trial is testing

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

Who this might be right for
Urea Cycle Disorder
Amgen 203
Not applicableEnded earlyNCT01421888
What this trial is testing

The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity

Who this might be right for
Argininosuccinic AciduriaCarbamoyl-Phosphate Synthase I DeficiencyCitrullinemia+3 more
National Human Genome Research Institute (NHGRI) 4
Testing effectiveness (Phase 2)Study completedNCT01624311
What this trial is testing

Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants

Who this might be right for
Urea Cycle DisordersOrganic Acidemias
Uta Lichter-Konecki 5