Clinical trials: Ornithine Transcarbamylase Deficiency Disease
Optical Coherence Tomography (OCT) of the Retina, Mutation
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
- Trial name
- VUS in Wolfram (NCT07485413)
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
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
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
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.
Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder
Neurologic Injuries in Adults With Urea Cycle Disorders
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.
- Conditions
- Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
- Trial name
- NCT00472732
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
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
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.
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
Acute Noninfectious Posterior, Intermediate, or Pan Uveitis
Study of FTY720 in Patients With Uveitis
This study will assess the safety, tolerability, and efficacy of FTY720 in patients with acute, noninfectious intermediate, posterior and pan uveitis
- Trial name
- NCT01791192
- Testing
- FTY720, Oral Corticosteroid
- Sponsor
- Novartis Pharmaceuticals
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
Coronary Artery Disease
Observational Study of OCT in a Patients Undergoing FFR
The purpose of this study is to define and evaluate optical coherence tomography (OCT) stent guidance parameters through prospective data collection in percutaneous coronary intervention (PCI) procedures of de novo lesions.
- Trial name
- ILUMIEN I (NCT01663896)
- Testing
- OCT stent guidance
- Where
- 36 sites in United States, Australia and 12 more
- Volunteers
- 418 people
- Sponsor
- Abbott Medical Devices
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
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)
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
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
Multimorbidity, Cardiovascular Diseases
Chuvashia Inappropriate Prescribing Study
This is a cross-sectional study based on an outpatient registry. All medical therapy will be registered in order to assess inappropriate prescribing's, in accordance with the criteria PROMPT and BEERS, also in accordance with the…
- Trial name
- CHIP (NCT06845397)
- Where
- Russia
- Volunteers
- 300 people
- Sponsor
- National Medical Research Center for Therapy and Preventive Medicine
Ornithine Transcarbamylase Deficiency, Wilson Disease
Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease
- Conditions
- Ornithine Transcarbamylase Deficiency, Wilson Disease, Glycogen Storage Disease Type IA
- Trial name
- NCT04909346
- Where
- 5 sites in United States, Brazil and 3 more
- Volunteers
- 51 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
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
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