Ignite Creation Date:
2024-05-05 @ 5:33 PM
Last Modification Date:
2024-10-26 @ 9:32 AM
Study NCT ID:
NCT00472732
Status:
COMPLETED
Last Update Posted:
2015-06-24
First Post:
2007-05-11
Brief Title:
Neurologic Injuries in Adults With Urea Cycle Disorders
Sponsor:
Andrea Gropman
Organization:
Childrens National Research Institute
Study Overview
Official Title:
Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI Functional MRI and Magnetic Resonance Spectroscopy
Status:
COMPLETED
Status Verified Date:
2015-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| U54RR019453 | NIH | None | httpsreporternihgovquickSearchU54RR019453 |