Condition: Urea Cycle Disorder · Organic Acidemia · Maple Syrup Urine Disease · Sponsor: Children's National Research Institute
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).
This description comes directly from the study's public registry record.
Katie Rice, MPH, CCRP · 202-476-6191 · krice3@childrensnational.org
Nicholas Ah Mew, MD · 202-476-5863 · nahmew@childrensnational.org
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| Children's National Research Institute | Washington D.C., District of Columbia, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04602325