Systemic Biomarkers of Brain Injury From Hyperammonemia

Description

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).

Conditions

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

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Study Overview

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Study Details

Study overview

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).

Systemic Biomarkers of Brain Injury From Hyperammonemia

Systemic Biomarkers of Brain Injury From Hyperammonemia

Condition
Urea Cycle Disorder
Intervention / Treatment

-

Contacts and Locations

Washington

Children's National Research Institute, Washington, District of Columbia, United States, 20010

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * Argininosuccinate Synthetase Deficiency (ASD)
  • * Argininosuccinate Lyase Deficiency (ALD)
  • * Arginase Deficiency (AD)
  • * Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH)
  • 2. A clinical diagnosis of 1 of 2 organic acidemias:
  • * Propionic Acidemia (PA)
  • * Methylmalonic Acidemia (MMA)
  • 2. Acute metabolic disorder without hyperammonemia, with neurological sequelae
  • 1. Maple Syrup Urine Disease (MSUD)
  • 2. Glutaric Acidemia (GA1)
  • 3. 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
  • 4. Hypoxic-Ischemic Encephalopathy
  • * 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

Ages Eligible for Study

7 Years to 18 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Children's National Research Institute,

Nicholas Ah Mew, MD, PRINCIPAL_INVESTIGATOR, Children's National Research Institute

Ljubica Caldovic, PhD, STUDY_CHAIR, Children's National Research Institute

Study Record Dates

2027-05