Clinical trials: Urea Cycle Disorders
Urea Cycle Disorder, Lysinuric Protein Intolerance
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn…
- Trial name
- NCT05706714
- Where
- Turkey (Türkiye)
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Liver Disease in Urea Cycle Disorders
This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04612764
- Where
- 5 sites in United States
- Volunteers
- 62 people
- Sponsor
- Baylor College of Medicine
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
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
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
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 Disorder, Ornithine Transcarbamylase Deficiency
Hepatic Histopathology in Urea Cycle Disorders
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04908319
- Where
- 2 sites in United States
- Volunteers
- 70 people
- Sponsor
- Baylor College of Medicine
Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency
The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Objectives: To study nutrition and immune system problems in people with urea cycle disorders. To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines.
- Conditions
- Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia, Ornithine Carbamoyltransferase Deficiency
- Trial name
- NCT01421888
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ornithine Transcarbamylase Deficiency, OTC Deficiency
Study for Adolescents and Adults With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810
The primary objective is to evaluate the safety and tolerability of repeated doses of intravenously administered ARCT-810.
- Conditions
- Ornithine Transcarbamylase Deficiency, OTC Deficiency, OTCD
- Trial name
- NCT05526066
- Testing
- ARCT-810
- Where
- 14 sites in Belgium, France and 4 more
- Volunteers
- 8 people
- Sponsor
- Arcturus Therapeutics, Inc.
Uveitis, Posterior
Role of OCT & OCT Angiography in Patients With Posterior at the Uveitis Clinic of Assiut University Hospital.
OCT angiography is a recent evaluation of OCT technology which combines the structural assessment of ocular tissues obtained by OCT image with visualization of blood flow within the vessels in imaged area.
- Trial name
- NCT06743906
- Volunteers
- 25 people
- Sponsor
- Assiut University
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
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Hepatocellular Carcinoma (HCC)
Triple Recipient Strategy Using Split, Domino, and Auxiliary Techniques
The investigators report a case of the simultaneous use of split liver transplantation (SLT), domino liver transplantation (DLT) and auxiliary liver transplantation (ALT) to achieve "one donor for three recipients".
- Trial name
- NCT06683820
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Urea cycle disorders are inherited illnesses in which the body does not produce enough of the chemicals that remove ammonia, a byproduct of protein metabolism, from the blood stream.
- Conditions
- Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00345605
- Testing
- Sodium Phenylbutyrate, Arginine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Brendan Lee
Urea Cycle Disorders
Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
This non-randomized, open-label study was approximately one year in duration and consisted of a short term NaPBA to HPN-100 switchover part involving two overnight stays followed by a 12-month long term treatment period involving…
- Trial name
- NCT01347073
- Testing
- HPN-100
- Where
- 8 sites in United States
- Volunteers
- 23 people
- Sponsor
- Amgen
Urea Cycle Disorders
Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients
Urea cycle disorders (UCDs) are dramatic congenital inherited metabolic disorders. There is no cure. Many novel therapeutic approaches are currently being developed, which hopefully will change the current situation.
- Trial name
- NCT05671666
- Testing
- Urea cycle flux study
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish…
- Conditions
- Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism, Propionic Acidemia, Methylmalonic Acidemia
- Trial name
- NCT01341379
- Testing
- N-carbamylglutamate
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Urea Cycle Disorder, Propionic Aciduria
MyRareDiet A Novel Diet Tracking Tool
The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to…
- Conditions
- Urea Cycle Disorder, Propionic Aciduria, Maple Syrup Urine Disease, Methylmalonic Acidemia
- Trial name
- MRD (NCT06664840)
- Testing
- MDR diet assessment, 24 hour recall
- Volunteers
- 60 people
- Sponsor
- Oregon Health and Science University
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
OTC Deficiency
Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.
- Trial name
- NCT05345171
- Testing
- DTX301, Oral Corticosteroids, Sodium Acetate
- Where
- 16 sites in United States, Argentina and 8 more
- Volunteers
- 37 people
- Sponsor
- Ultragenyx Pharmaceutical Inc