Clinical trials: Urea Cycle Disorders, Inborn
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 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, 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
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
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
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, Uremia
Dysregulated Urea-synthesis at Terminal Uremia
This project will examine the dysregulation of the urea cycle in patients with terminal uremia using a validated method named "Functional Hepatic Nitrogen Clearance"
- Trial name
- NCT05076318
- Testing
- Aminoacid, alanine-infusion
- Where
- Denmark
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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.
Urea Cycle Disorders, Inborn
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers.
- Trial name
- BPA/Benzoate (NCT02111200)
- Testing
- Sodium Benzoate, Sodium Phenylbutyrate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Citrullinemia
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily.
- Trial name
- NOASSD (NCT01610089)
- Testing
- stable isotope infusion
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Epiretinal Membrane
Epiretinal Membrane in Patients With DR.
To report the prevalence of ERM among patients with diabetic retinopathy, and the possible associated risk factors.
- Trial name
- NCT07241845
- Testing
- OCT
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Assiut University
Health, Hypertension
Optical Coherence Tomography And NEphropathy: The OCTANE Study
Patients with high blood pressure (hypertension) and chronic kidney disease are at an increased risk of developing heart disease and strokes.
- Conditions
- Health, Hypertension, Chronic Kidney Disease
- Trial name
- NCT02132741
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Edinburgh
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, 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 Disorders, Inborn, Urea Cycle Disorders
Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD
Phase 1/2 Study of KRRO-121 is a randomized, placebo-controlled study in Healthy Volunteers (Phase 1 SAD and MAD) and Study Participants with Urea Cycle Disorders (Phase 2).
- Conditions
- Urea Cycle Disorders, Inborn, Urea Cycle Disorders, Ornithine Transcarbamylase (OTC) Deficiency, Arginase 1 Deficiency
- Trial name
- ANCHOR (NCT07773246)
- Testing
- KRRO-121
- Where
- Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Korro Bio, Inc.
Urea Cycle Disorders
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological…
- Trial name
- UCD (NCT02935283)
- Testing
- MRI, Behavioral
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Amino Acid Metabolism, Inborn Errors
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine .
- Trial name
- NCT00004307
- Testing
- Protein and calorie controlled diet, Ornithine transcarbamylase vector
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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)
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