Systemic Biomarkers of Brain Injury From Hyperammonemia
Recruiting
Observational Study
Urea Cycle Disorder
Organic Acidemia
Maple Syrup Urine Disease
Glutaric Acidemia I
Fatty Acid Oxidation Disorder
Hypoxic-Ischemic Encephalopathy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 7 – 18
- Sex
- Any
- Study type
- Observational
- Participants needed
- 24 (estimated)
- Sponsor
- Children's National Research Institute · Other
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About This Trial
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed:
Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammo…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
1. Inherited Hyperammonemias:
1. A clinical diagnosis of 1 of 7 diagnosed urea cycle disorders:
* N-acetylglutamate Synthetase Deficiency (NAGS)
* Carbamyl Phosphate Synthetase Deficiency (CPSD)
* Ornithine Transcarbamylase Deficiency (OTCD)
* Argini…
Contacts