Systemic Biomarkers of Brain Injury From Hyperammonemia

Recruiting now

Conditions studied: Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I, Fatty Acid Oxidation Disorder, Hypoxic-Ischemic Encephalopathy

In brief

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).

Key facts

Study ID

NCT04602325

Run by

Children's National Research Institute

People needed

24

Starts

2020-07-09

Expected to finish

2027-05-01

Last updated by the study team

2024-02-07

Who can join

Age: 7 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Inherited Hyperammonemias:
• 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)
• Argininosuccinate Synthetase Deficiency (ASD)
• Argininosuccinate Lyase Deficiency (ALD)
• Arginase Deficiency (AD)
• Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH)
• A clinical diagnosis of 1 of 2 organic acidemias:
• Propionic Acidemia (PA)
• Methylmalonic Acidemia (MMA)
• Acute metabolic disorder without hyperammonemia, with neurological sequelae
• Maple Syrup Urine Disease (MSUD)
• Glutaric Acidemia (GA1)
• Acute metabolic disorder without hyperammonemia and without neurological sequelae
• Fatty Acid Oxidation Disorders:
• Medium Chain-Acyl CoA Dehydrogenase Deficiency
• Very Long Chain-Acyl CoA Dehydrogenase Deficiency
• Trifunctional Protein Deficiency
• Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
• Carnitine Palmitoyltransferase I or II Deficiency
• Carnitine/Acylcarnitine Translocase Deficiency
• Primary Carnitine Transport Deficiency
• Hypoxic-Ischemic Encephalopathy

You may not qualify if…

• Prior Solid-Organ Transplant
• Use of any other investigational drug, biologic, or therapy or any clinical or laboratory abnormality or medical condition that, as determined by the investigator, may interfere with or obscure the biomarker measurements

Where it is running

• Children's National Research Institute — Washington D.C., District of Columbia, United States (enrolling)

Full record on ClinicalTrials.gov

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