Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
This observational study is looking at how urea cycle disorders (UCDs) affect the brain. Specifically, it focuses on ornithine transcarbamylase deficiency (OTCD), a common UCD where the body can't properly remove ammonia, a waste product. High ammonia levels can harm the brain. Researchers will use different types of magnetic resonance imaging (MRI), including fMRI, 1H MRS, and DTI, along with behavioral tests, to understand these brain changes. They want to see how the concentration of brain chemicals like glutamine and myoinositol changes, and how brain structure (fractional anisotropy) is affected over two years. You might be able to join if you are between 7 and 50 years old, have a confirmed diagnosis of OTCD with a history of high ammonia episodes, and can have an MRI without sedation. The study's status is currently unclear.
- Study design
- This is an observational study planning to enroll 56 participants. It is not specified if it is randomized or blinded.
- What's involved
- Participants will undergo MRI scans and complete a battery of executive function tasks at baseline and a two-year follow-up.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for two years after their baseline measurements.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Andrea L. Gropman, M.D. · PRINCIPAL_INVESTIGATOR · Children's National Research Institute
Who to contact
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What this trial measures
- Change in Concentration of Glutamine and Myoinositol by MRSbaseline and 2year follow up
Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocols used selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point. Furthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM).
- Change in Fractional Anisotropybaseline and 2 year follow up
Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage.