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.
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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

Katie Rice, MPH, CCRP

202-476-6191

krice3@childrensnational.org

CONTACT

Nicholas Ah Mew, MD

202-476-5863

nahmew@childrensnational.org

CONTACT