Clinical trials: Ornithine Transcarbamylase Deficiency
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
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)
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
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
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
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
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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.
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
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 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.
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
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
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)
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