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Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
NCT02935283 · View on ClinicalTrials.gov ↗
Study Summary
In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological injury. In contrast, in distal UCD such as citrullinemia (argininosuccinate synthetase deficiency; (ASSD) and argininosuccinic aciduria (argininosuccinate lyase deficiency); (ASLD) cognitive impairment and neuropsychiatric disease are common even in the absence of acute HA. As a consequence, both citrulline and argininosuccinate (ASA) or their metabolic products have been implicated as neurotoxic. In this project the investigators will use state-of- the-art neuroimaging and neuropsychological methods to investigate whether patients with OTCD have chronically elevated brain Gln and reduced myo-inositol (mI) levels that correlate with regional brain structural abnormalities and neurocognitive dysfunction. The researchers will further investigate whether during an acute episode of HA elevated brain Gln and decreased mI levels correlate with the magnitude of cytotoxic edema and whether a Gln/mI ratio threshold can be identified at which the cytotoxic edema is followed by cell loss. Finally, the researchers will investigate whether regions of brain damage in ASSD and/or ASLD are distinct from those in OTCD and compare brain Gln levels in ASSD and ASLD in the absence of HA to those in OTCD. The investigators will also seek to determine if brain citrulline and ASA can be identified in the brains of patients with distal UCD and whether they correlate with brain abnormalities seen in MRI and neuropsychological testing. This project will elucidate the chronology of brain pathology both in acute hyperammonemia and chronic UCD and whether, proximal and distal UCD differ in their pathophysiology of brain damage.
Conditions Studied
Interventions
- PROCEDURE MRI
- BEHAVIORAL Behavioral
Study Locations (1)
District of Columbia
- Children's Research Institute — Washington D.C.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 56 participants |
| Start Date | 2016-08 |
| Est. Completion | 2025-12 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02935283
The ClinicalTrials.gov registry entry for NCT02935283 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 56 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Children's National Research Institute, which has 114 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Urea Cycle Disorders appearing as the primary indexed condition, and to 2 interventions — of which MRI is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02935283 reports 1 study location spanning 1 distinct geographic area — top geographies include District of Columbia. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02935283 about?
NCT02935283 is a clinical study titled "Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders". In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological injury. In contrast, in distal UCD such as citrullinemia (argininosuccinat...
What is the current status of trial NCT02935283?
This trial is currently recruiting. The enrollment target is 56 participants. The study started on 2016-08. Estimated completion is 2025-12.
What conditions does trial NCT02935283 study?
This clinical trial studies the following conditions: Urea Cycle Disorders. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT02935283?
The interventions under investigation include: MRI (PROCEDURE), Behavioral (BEHAVIORAL). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT02935283?
This trial is sponsored by Children's National Research Institute, which has 114 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02935283 being conducted?
This trial has 1 study location across District of Columbia. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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