Clinical trials: Urea Cycle Disorder
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
Urea Cycle Disorders
Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders
The primary purpose of the proposed study is to characterize the oxidative stress and inflammatory cytokine status in UCD during baseline and decompensated states.
- Trial name
- NCT01541722
- Where
- 11 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Mark Batshaw
Age-related Macular Degeneration, Stargardt Disease
Efficacy of Acupuncture in Macular Diseases
This is a single-arm study designed to assess the efficacy of acupuncture (Traditional Chinese Medicine) for chronic macular diseases of several types.
- Conditions
- Age-related Macular Degeneration, Stargardt Disease, Macular Dystrophy
- Trial name
- AMAD (NCT02255981)
- Testing
- Acupuncture and massage
- Where
- 2 sites in Colombia
- Volunteers
- 33 people
- Sponsor
- Escuela Neijing
Urea Cycle Disorders
Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Protocol HPN-100-005 was the first study of HPN-100 in pediatric subjects with urea cycle disorders (UCDs) and was a fixed-sequence, open-label, switch over study of HPN-100 with a long-term (12 month) safety extension designed…
- Trial name
- NCT00947544
- Testing
- HPN-100, NaPBA
- Where
- 8 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Amgen
Urea Cycle Disorder
Chronic Liver Disease in Urea Cycle Disorders
This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders.
- Trial name
- NCT03721367
- Testing
- Diagnostic Ultrasound
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Baylor College of Medicine
Ornithine Transcarbamylase Deficiency
Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
Ornithine transcarbamylase deficiency (OTCD) is an inherited metabolic liver disease which means that the body cannot maintain normal levels of ammonia.
- Trial name
- HORACE (NCT05092685)
- Testing
- AAVLK03hOTC
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- University College, London
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Inborn Errors of Metabolism, Propionic Aciduria
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Trial name
- IEM (NCT05330039)
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Emma Marie Caroline Slack
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Urea Cycle Disorders
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Treatment with liver cell infusion for children with urea cycle disorders (UCD).
- Trial name
- NCT01195753
- Testing
- HHLivC
- Where
- 5 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Cytonet GmbH & Co. KG
Amino Acid Metabolism, Inborn Errors
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine .
- Trial name
- NCT00004307
- Testing
- Protein and calorie controlled diet, Ornithine transcarbamylase vector
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Urea Cycle Disorders, Organic Acidemias
At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home.
- Conditions
- Urea Cycle Disorders, Organic Acidemias, Fatty Acid Oxidation Disorder, Ammonia; Metabolic Disorder
- Trial name
- NCT06953505
- Testing
- Ammonia Study Device
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Sequitur Health Corp.
Argininosuccinate Lyase Deficiency, Urea Cycle Disorder
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
This is a study involving a dietary supplement. Patients with argininosuccinate lyase deficiency (ASLD) will be randomly assigned to receive either a nitric oxide dietary supplement or placebo for 24 weeks, and then crossed-over…
- Conditions
- Argininosuccinate Lyase Deficiency, Urea Cycle Disorder, Urea Cycle Disorders, Inborn, Argininosuccinic Aciduria
- Trial name
- NCT03064048
- Testing
- Neo-ASA
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Baylor College of Medicine
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic acidemia (MMA), late-onset CPS1…
- Conditions
- Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
- Trial name
- STO (NCT01599286)
- Testing
- Carbaglu
- Where
- 9 sites in United States
- Volunteers
- 35 people
- Sponsor
- Mendel Tuchman
Ornithine Transcarbamylase Deficiency
Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
The purpose of this study is to use various types of MRI and cognitive testing to evaluate changes in the brain and cognitive function that occur in subjects with ornithine transcarbamylase deficiency (OTCD) relative to healthy…
- Trial name
- NCT01569568
- Testing
- MRI scanning, Cognitive testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
Disorder of the Urea Cycle
Investigating Project of the Functional C13 Test "Pilot Study"
The aim of this pilot study is to evaluate the validity and reproducibility of a functional test "Test C13" ureogenesis to measure in vivo, using the methodology Laboratory of Metabolic Diseases of "Cliniques Universitaires…
- Trial name
- PIL001 (NCT01560897)
- Testing
- Oral C13
- Where
- Belgium
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Arginase I Deficiency, Hyperargininemia
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102.
- Trial name
- NCT02488044
- Testing
- AEB1102
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Aeglea Biotherapeutics
Urea Cycle Disorder
A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients
This is a phase2, prospective, open label study designed to investigate the safety and efficacy of several infusions of HepaStem. This study will include 5 pediatric Urea Cycle Disorder (UCD) patients under 12 years old.
- Trial name
- NCT03884959
- Testing
- HepaStem Infusion
- Where
- South Korea
- Sponsor
- HLB Cell Co., Ltd.
Urea Cycle Disorder
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
This is a randomized, controlled, open-label parallel arm study to assess the safety, tolerability, pharmacokinetics and ammonia control, of RAVICTI® as compared to Sodium phenylbutyrate (NaPBA) in urea cycle disorder subjects…
- Trial name
- NCT03335488
- Testing
- RAVICTI, NaPBA
- Where
- 11 sites in United States, Italy and 2 more
- Volunteers
- 16 people
- Sponsor
- Amgen
Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Urea cycle disorders are rare inherited diseases that generally have a poor outcome. In this study, neonates and infants with UCD will be included within the first 3 months of life and will be treated by repetitive application of…
- Conditions
- Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency, Ornithine Transcarbamylase Deficiency, Citrullinemia
- Trial name
- NCT00718627
- Testing
- Human Heterologous Liver Cells
- Where
- 2 sites in Germany
- Volunteers
- 12 people
- Sponsor
- Cytonet GmbH & Co. KG