Clinical trials: Disorder of the Urea Cycle
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
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
UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder
UNLOCKED: A Phase 2 Trial to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
- Trial name
- UNLOCKED (NCT03933410)
- Testing
- KB195
- Where
- 19 sites in United States, Belgium and 5 more
- Volunteers
- 13 people
- Sponsor
- Kaleido Biosciences
Optical Coherence Tomography (OCT) of the Retina
Low Cost OCT for Point of Care
The purpose of this study is to compare the performance of a prototype optical coherence tomography (OCT) machine with currently available high resolution OCT machines.
- Trial name
- NCT03323307
- Testing
- OCT imaging
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Duke University
Analgesia
A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations
A study investigating the pharmacokinetic profiles of four extended release paracetamol formulations
- Trial name
- NCT01568749
- Testing
- Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Urea Cycle Disorders, Crigler Najjar Syndrome
Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN)
The purpose of this study is to assess the safety and to appraise the efficacy of one cycle of Hepastem (Heterologous Human Adult Liver-derived Progenitor Cells, HHALPC) infusions in paediatric patients suffering from CN or UCD.
- Trial name
- HEP001 (NCT01765283)
- Testing
- HepaStem
- Where
- 11 sites in Belgium, France and 3 more
- Volunteers
- 20 people
- Sponsor
- Cellaion SA
OTC Deficiency, Ornithine Transcarbamylase Deficiency
A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.
- Conditions
- OTC Deficiency, Ornithine Transcarbamylase Deficiency, OTCD
- Trial name
- NCT06488313
- Testing
- ARCT-810
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Arcturus Therapeutics, Inc.
Ornithine Transcarbamylase Deficiency
Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult Subjects
Determine the safety, tolerability and pharmacokinetics of single doses of ARCT-810 in healthy adult subjects.
- Trial name
- NCT04416126
- Testing
- ARCT-810
- Where
- New Zealand
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Arcturus Therapeutics, Inc.
Multiple Sclerosis, Optic Neuritis, Demyelinating Disease
Visual (Path)Ways in Multiple Sclerosis - Part II
Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated.
- Trial name
- VWIMS - II (NCT06776224)
- Testing
- Measurement of retinal vascular density and visual cognition
- Where
- France
- Volunteers
- 64 people
- Sponsor
- University Hospital, Lille
VITELLIFORM LESIONS
Radiomic Analysis in OCT Imaging of Acquired Vitelliform Lesions.
Vitelliform lesions (VLs) are subretinal accumulations of yellowish material on fundoscopy that correspond to hyperautofluorescent material on fundus autofluorescence (FAF) and hyperreflective subretinal material on structural…
- Trial name
- NCT07074041
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Federico II University
Urea Cycle Disorders
Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
The purpose of this study is to determine whether HPN-100 is safe and tolerable in subjects with Urea Cycle Disorders.
- Trial name
- NCT00551200
- Testing
- HPN-100, BUPHENYL®
- Where
- 2 sites in United States
- Volunteers
- 14 people
- Sponsor
- Amgen
Ornithine Transcarbamylase Deficiency
A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects
The objective of the study is to characterize 24-hour plasma ammonia levels, characterize urea production rates in healthy normal subjects.
- Trial name
- NCT04269122
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Ultragenyx Pharmaceutical Inc
Urea Cycle Disorders
Clinical Food Study to Evaluate the Effect of KB195 on Gut Nitrogen Metabolism in Patients With Urea Cycle Disorders
This clinical food study aims to explore the effect of KB195, a novel mixture of oligosaccharides, on the metabolism of nitrogen by the microbiome in patients with urea cycle disorders (UCDs).
- Trial name
- NCT03797131
- Testing
- KB195 (a novel mixture of oligosaccharides)
- Where
- Switzerland
- Volunteers
- 4 people
- Sponsor
- Kaleido Biosciences
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
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, Inborn Errors of Metabolism
A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD
Original study: Study aims to enroll 3-5 children with confirmed Urinary Cycle Disorder (UCD). Subjects meeting the inclusion and exclusion criteria are included during the baseline visit.
- Trial name
- NCT03911089
- Testing
- UCD Anamix Infant
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Nutricia Research
Ornithine Transcarbamylase Deficiency
Phase 1b Study to Assess Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subjects With Ornithine Transcarbamylase Deficiency
Determine the safety, tolerability and pharmacokinetics of single doses of ARCT-810 in clinically stable patients (stable on standard of care treatment, e.g.
- Trial name
- NCT04442347
- Testing
- ARCT-810
- Where
- 8 sites in United States
- Volunteers
- 16 people
- Sponsor
- Arcturus Therapeutics, Inc.
Urea Cycle Disorders
Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment
In this short-term study a method for the evaluation of the metabolic competency of the urea cycle in vivo will be assessed. In order to monitor the efficacy of new treatment options for patients with urea cycle disorders and to…
- Trial name
- NCT01002469
- Testing
- sodium [1-13C] acetate
- Where
- Germany
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
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