Clinical trials: Urea Cycle Disorders, Inborn
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
Ornithine Transcarbamylase Deficiency
Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency
The objectives of the study are to characterize urea production rates in patients with OTC, characterize the association of rate of ureagenesis and disease severity in OTC patients, characterize the association of rate of…
- Trial name
- NCT04717453
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
Healthy Volunteer, Urea Cycle Disorder
Safety and Tolerability of SYNB1020-CP-001
A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics
- Trial name
- SYNB1020CP001 (NCT03179878)
- Testing
- SYNB1020
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Synlogic
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
Ornithine Transcarbamylase Deficiency Disease
Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency
OBJECTIVES: Evaluate the safety and feasibility of administering recombinant adenovirus containing the ornithine transcarbamylase gene to adults with partial ornithine transcarbamylase deficiency.
- Trial name
- NCT00004386
- Testing
- recombinant adenovirus containing the ornithine transcarbamylase gene
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
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
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, 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
Glaucoma, Neuroprotection
Effect of Fixed Combination Citicoline Homotaurine and Pyrroloquinoline Quinone on Pattern-electroretinogram in Glaucoma
The goal of this clinical trial is to examine the effect of the fixed combination Citicoline 500 mg, Homotaurine 50 mg, Pyrroloquinoline quinone (PQQ) disodium salt (Neuprozin Mito®) on pattern electroretinogram (PERG) in…
- Trial name
- NCT06431113
- Testing
- Citicoline 500 mg plus Homotaurine 50 mg plus Pyrroloquinoline quinone (Neuprozin Mito® )
- Where
- 2 sites in Italy
- Volunteers
- 40 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Coronary Artery Calcification, Angioplasty
CAlcified Lesion Intervention Planning Steered by OCT.
Calcified lesions are very frequent among coronary artery disease stenotic lesions. The prevalence of calcifications ranges from 30 to 40% (by angiography evaluation) but is higher when analyzed by intra coronary imaging.
- Trial name
- CALIPSO (NCT05301218)
- Testing
- angioplasty
- Where
- 14 sites in France
- Volunteers
- 140 people
- Sponsor
- Institut Mutualiste Montsouris
COPD, Dyspnea
Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD
Different studies have suggested that COPD is associated with elevated alveolar NO and increased expression of NOS2 in alveolar walls, small airway epithelium and vascular smooth muscle.
- Conditions
- COPD, Dyspnea, Argininemia
- Trial name
- NCT05412160
- Testing
- Arginine
- Where
- Italy
- Volunteers
- 153 people
- Sponsor
- University of Milan
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.
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