RecruitingNCT04602325

Systemic Biomarkers of Brain Injury From Hyperammonemia

Sponsor

Children's National Research Institute

Enrollment

24 participants

Start Date

Jul 9, 2020

Study Type

OBSERVATIONAL

Conditions

Urea Cycle Disorder Organic Acidemia Maple Syrup Urine Disease Glutaric Acidemia I Fatty Acid Oxidation Disorder Hypoxic-ischemic encephalopathy.

Summary

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 hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder. Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).

Eligibility

Min Age: 7 YearsMax Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying a new treatment for people with fatty acid oxidation disorder, glutaric acidemia i, and other related conditions. The study is currently recruiting participants at 1 location.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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