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

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

Inclusion Criteria25

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

Exclusion Criteria2

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

Print for Your Doctor

Interested in this trial?

Get notified about updates and connect with the research team.