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Tracking Information | |||||
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First Received Date † | May 11, 2007 | ||||
Last Updated Date | September 2, 2008 | ||||
Start Date † | March 2007 | ||||
Current Primary Outcome Measures † | |||||
Original Primary Outcome Measures † | |||||
Change History | Complete list of historical versions of study NCT00472732 on ClinicalTrials.gov Archive Site | ||||
Current Secondary Outcome Measures † | |||||
Original Secondary Outcome Measures † | |||||
Descriptive Information | |||||
Brief Title † | Neurologic Injuries in Adults With Urea Cycle Disorders | ||||
Official Title † | Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy | ||||
Brief 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. |
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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. |
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Study Phase | |||||
Study Type † | Observational | ||||
Study Design † | Cohort, Prospective | ||||
Condition † |
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Intervention † | |||||
Study Arms / Comparison Groups |
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Publications * |
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* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline. |
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Recruitment Information | |||||
Recruitment Status † | Recruiting | ||||
Estimated Enrollment † | 46 | ||||
Estimated Completion Date | July 2009 | ||||
Estimated Primary Completion Date | July 2009 (final data collection date for primary outcome measure) | ||||
Eligibility Criteria † | Inclusion Criteria for Participants with OTCD:
Inclusion Criteria for Healthy Controls:
Inclusion Criteria for All Participants:
Exclusion Criteria for All Participants:
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Gender | Both | ||||
Ages | 18 Years to 60 Years | ||||
Accepts Healthy Volunteers | Yes | ||||
Contacts †† |
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Location Countries † | United States | ||||
Expanded Access Status | |||||
Administrative Information | |||||
NCT ID † | NCT00472732 | ||||
Responsible Party | Andrea Groopman, MD, Children's National Medical Center | ||||
Secondary IDs †† | |||||
Study Sponsor † | Office of Rare Diseases (ORD) | ||||
Collaborators †† | Rare Diseases Clinical Research Network | ||||
Investigators † |
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Information Provided By | Office of Rare Diseases (ORD) | ||||
Verification Date | September 2008 | ||||
† Required WHO trial registration data element. †† WHO trial registration data element that is required only if it exists. |