Neurologic Injuries in Adults With Urea Cycle Disorders
- Full Text View
- Tabular View
- No Study Results Posted
- Disclaimer
- How to Read a Study Record
Purpose
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.
| Condition |
|---|
|
Brain Diseases, Metabolic, Inborn Urea Cycle Disorder Ornithine Transcarbamylase Deficiency |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Official Title: | Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy |
| Enrollment: | 46 |
| Study Start Date: | March 2007 |
| Study Completion Date: | July 2010 |
| Primary Completion Date: | July 2009 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
1
Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD
|
|
2
Healthy males or females without known medical or metabolic disorder (control group)
|
Detailed 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.
Eligibility| Ages Eligible for Study: | 18 Years to 60 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD
Inclusion Criteria for Participants with OTCD:
- Diagnosis of OTCD or heterozygote state of OTCD by metabolic or molecular means. Female participants must be clinically stable and heterozygous for OTCD. Male participants must be hemizygous for late onset OTCD.
Inclusion Criteria for Healthy Controls:
- No known medical or metabolic disorder
Inclusion Criteria for All Participants:
- IQ of at least 80
- Willing to travel to study site
- English-speaking
- Age between 18 and 60 years
Exclusion Criteria for All Participants:
- Currently being treated for an acute illness
- History of neuropsychiatric drug use
- Unable to undergo MRI scanning without being sedated
- Unable to participate in neurocognitive and/or motor testing
- Metal device in body that might interfere with MRI scanning
- Pregnancy or breastfeeding
Contacts and Locations| United States, District of Columbia | |
| George Washington University School of Medicine | |
| Washington, District of Columbia, United States, 20037 | |
| Georgetown University | |
| Washington, District of Columbia, United States, 20057 | |
| Study Chair: | Andrea Gropman, MD | Children's Research Institute |
More Information
Publications:
| Responsible Party: | Children's Research Institute |
| ClinicalTrials.gov Identifier: | NCT00472732 History of Changes |
| Other Study ID Numbers: | RDCRN 5104, U54RR019453 |
| Study First Received: | May 11, 2007 |
| Last Updated: | February 8, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by Children's Research Institute:
|
UCD OTCD Ammonia Urea Metabolism Inborn Errors |
Additional relevant MeSH terms:
|
Brain Diseases Brain Diseases, Metabolic Metabolic Diseases Urea Cycle Disorders, Inborn Ornithine Carbamoyltransferase Deficiency Disease Brain Diseases, Metabolic, Inborn |
Central Nervous System Diseases Nervous System Diseases Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Genetic Diseases, X-Linked |
ClinicalTrials.gov processed this record on May 19, 2013