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Sponsors and Collaborators: |
Office of Rare Diseases (ORD) Rare Diseases Clinical Research Network |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00472732 |
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 |
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Brain Diseases, Metabolic, Inborn Urea Cycle Disorder Ornithine Transcarbamylase Deficiency |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy |
Estimated Enrollment: | 46 |
Study Start Date: | March 2007 |
Estimated Study Completion Date: | July 2009 |
Estimated Primary Completion Date: | July 2009 (Final data collection date for primary outcome measure) |
Groups/Cohorts |
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1
Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD
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2
Healthy males or females without known medical or metabolic disorder (control group)
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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.
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:
Inclusion Criteria for Healthy Controls:
Inclusion Criteria for All Participants:
Exclusion Criteria for All Participants:
Contact: Kyle Shattuck | 202-687-3592 |
United States, District of Columbia | |
George Washington University School of Medicine | Not yet recruiting |
Washington, District of Columbia, United States, 20037 | |
Principal Investigator: Mark Batshaw, MD | |
Principal Investigator: Mendel Tuchman, MD | |
Georgetown University | Recruiting |
Washington, District of Columbia, United States, 20057 | |
Principal Investigator: Stanley Fricke, PhD | |
Principal Investigator: John Van Meter, PhD | |
Principal Investigator: Andrea Gropman, MD |
Study Chair: | Andrea Groopman, MD | Childrens Research Institute |
Responsible Party: | Children's National Medical Center ( Andrea Groopman, MD ) |
Study ID Numbers: | RDCRN 5104 |
Study First Received: | May 11, 2007 |
Last Updated: | September 2, 2008 |
ClinicalTrials.gov Identifier: | NCT00472732 |
Health Authority: | United States: Federal Government |
UCD OTCD Ammonia Urea Metabolism Inborn Errors |
Metabolic Diseases Urea cycle disorders Amino Acid Metabolism, Inborn Errors Central Nervous System Diseases Brain Diseases Ornithine Carbamoyltransferase Deficiency Disease Metabolism, Inborn Errors |
Inborn amino acid metabolism disorder Genetic Diseases, Inborn Brain Diseases, Metabolic, Inborn Metabolic disorder Ornithine Transcarbamylase Deficiency Brain Diseases, Metabolic Deficiency Diseases |
Pathologic Processes Disease Nervous System Diseases |