Neurologic Injuries in Adults With Urea Cycle Disorders

Status Completed

Clinical Trial Summary

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.

Clinical Trial Description

UCDs are a group of rare genetic diseases that affect how protein is broken down in the body. The cause of UCDs is a deficiency in one of eight enzymes responsible for removing ammonia, a waste product of protein metabolism, from the bloodstream. Normally, ammonia is converted into urea and then removed from the body in the form of urine. However, in people with UCDs, ammonia accumulates unchecked and is not removed from the body. Toxic levels of ammonia can build up and cause irreversible neurologic damage that can affect metabolism, cognition, sensation, and movement. This study will focus on the most common enzyme disorder among UCDs, ornithine transcarbamylase deficiency (OTCD), a disorder inherited from mothers. Using different types of magnetic resonance imaging (MRI), this study will evaluate how UCD-related neurologic injuries affect metabolism, cognition, sensation, and movement in adults with OTCD.

Participants in this study will attend an initial study visit that will include a review of medical history, current symptoms, impairments, and diet history; urine and blood collection; a physical exam; a full neurological exam; and cognitive and motor testing. During this visit, participants will undergo imaging studies and additional cognitive and motor testing over a 2- to 3-day period. This will include standard MRI studies and four sessions consisting of functional MRI (fMRI), diffusion tensor imaging, and 1H magnetic resonance spectroscopy. For the fMRI study, participants perform various motor and behavioral tasks while in the imaging scanner. Magnetic resonance spectroscopy (MRS) is used to study and evaluate the chemical makeup of specific brain areas. Diffusion tensor imaging is used to assess myelination of major brain pathways and their alteration in disease states. This study will involve one-time participation. There will be no follow-up visits for this study. ;

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Brain Diseases
Brain Diseases, Metabolic, Inborn
Metabolic Diseases
Ornithine Transcarbamylase Deficiency
Urea Cycle Disorder
Urea Cycle Disorders, Inborn

Clinical Trial Details

NCT number	NCT00472732
Study type	Observational
Source	Children's Research Institute
Contact
Status	Completed
Phase	N/A
Start date	March 2007
Completion date	July 2010

View Details

See also
Status	Clinical Trial	Phase
Terminated	`NCT01948427` - Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Terminated	`NCT03933410` - UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder	Phase 2
Completed	`NCT03064048` - Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD	N/A
Recruiting	`NCT04612764` - Liver Disease in Urea Cycle Disorders
Completed	`NCT05330039` - Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
Completed	`NCT03721367` - Chronic Liver Disease in Urea Cycle Disorders
Completed	`NCT03911089` - A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD	N/A
Terminated	`NCT03181828` - Manipulating the Gut Microbiome Study	Phase 1/Phase 2
Recruiting	`NCT05076318` - Dysregulated Urea-synthesis at Terminal Uremia	N/A
Completed	`NCT03179878` - Safety and Tolerability of SYNB1020-CP-001	Phase 1
Recruiting	`NCT04602325` - Systemic Biomarkers of Brain Injury From Hyperammonemia
Withdrawn	`NCT03884959` - A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients	Phase 2
Recruiting	`NCT04908319` - Hepatic Histopathology in Urea Cycle Disorders
Completed	`NCT03335488` - Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)	Phase 4
Completed	`NCT02246218` - A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders	Phase 4
Completed	`NCT04248062` - Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Completed	`NCT05706714` - Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Terminated	`NCT03343756` - HepaStem Long-Term Safety Registry

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.