Clinical trials: Urea Cycle Disorders
Urea Cycle Disorders
Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
The aim of the study is to assess the efficacy of HepaStem treatment in paediatric patients suffering from urea cycle disorders.
- Trial name
- NCT02489292
- Testing
- HepaStem
- Where
- 6 sites in Belgium, France and 2 more
- Volunteers
- 5 people
- Sponsor
- Cellaion SA
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
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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.
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
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
Urea Cycle Disorders, Inborn, Other Metabolic Diseases
Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Montmorillonite (MONT) is a phyllosilicate layered mineral with unique physicochemical properties, such as swelling and cation exchange capability.
- Trial name
- NCT02124330
- Testing
- montmorillonite 5 g, montmorillonite 3 g, Montmorillonite 1 g
- Where
- Italy
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Luca Ronfani
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
Urea Cycle Disorders
Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical…
- Trial name
- NCT02311283
- Where
- United States
- Volunteers
- 87 people
- Sponsor
- University of South Florida
Maculopathy, Age-Related, Choroidal Neovascularization
Age-related Macular Degeneration: Detection of Onset of New Choroidal Neovascularization (AMD DOC Study)
The purpose of this study is to determine the sensitivity of the optical coherence tomography (OCT) test in detecting neovascular AMD in eyes at high risk for CNV development.
- Trial name
- NCT00417846
- Where
- 4 sites in United States
- Volunteers
- 98 people
- Sponsor
- Johns Hopkins University
Acute Coronary Syndrome
Impact of OCT Imaging on Decision Making During PCI in ACS Patients
Optical coherence tomography (OCT) provides valuable information to guide percutaneous coronary intervention (PCI) in acute coronary syndrome (ACS) regarding lesion preparation, stent sizing, and stent optimization.
- Trial name
- NCT04444037
- Testing
- OCT-guided PCI
- Where
- Japan
- Volunteers
- 390 people
- Sponsor
- Assiut University
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
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
Acute Coronary Syndrome
Vessel Wall Response of the Bio-Active-stent and Everolimus-Eluting Stent Assessed By Optical Coherence Tomography
The purpose of the trial is to evaluate the completeness of struts coverage and vessel wall response (strut malapposition, neoin-timal formation) to the bio-active-stent (BAS) versus ever-olimus-eluting stent (EES) implanted for…
- Trial name
- BASE-OCT (NCT01080859)
- Testing
- OCT
- Where
- Finland
- Volunteers
- 40 people
- Sponsor
- The Hospital District of Satakunta
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
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, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
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
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