Systemic Biomarkers of Brain Injury From Hyperammonemia

Part of paid clinical trials in Washington D.C., District of Columbia.

Sponsor
Children's National Research Institute
Study ID
NCT04602325
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
7 Years - 18 Years
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
Jul 9, 2020
Status verified
Feb 2024
Primary completion
Jul 31, 2026
Completion
May 31, 2027

Study Design

Enrollment
24 participants (estimated)

Arms

  • Arm: Inherited Hyperammonemias
    A clinical diagnosis of 1 of 7 diagnosed urea cycle disorders: 1. N-acetylglutamate Synthetase Deficiency (NAGS) 2. Carbamyl Phosphate Synthetase Deficiency (CPSD) 3. Ornithine Transcarbamylase Deficiency (OTCD) 4. Argininosuccinate Synthetase Deficiency (ASD) 5. Argininosuccinate Lyase Deficiency (ALD) 6. Arginase Deficiency (AD) 7. Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) A clinical diagnosis of 1 of 2 organic acidemias: 1. Propionic Acidemia (PA) 2. Methylmalonic Acidemia (MMA)
  • Arm: Acute Metabolic Disorder + Neurological Sequelae
    Acute metabolic disorder without hyperammonemia but with neurological sequelae: 1. Maple Syrup Urine Disease (MSUD) 2. Glutaric Acidemia (GA1)
  • Arm: Fatty Acid Oxidation Disorders
    Acute metabolic disorder without hyperammonemia and without neurological sequelae: 1. Medium Chain-Acyl CoA Dehydrogenase Deficiency 2. Very Long Chain-Acyl CoA Dehydrogenase Deficiency 3. Trifunctional Protein Deficiency 4. Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency 5. Carnitine Palmitoyltransferase I or II Deficiency 6. Carnitine/Acylcarnitine Translocase Deficiency 7. Primary Carnitine Transport Deficiency
  • Arm: Hypoxic-Ischemic Encephalopathy
    Patients with hypoxic-ischemic encephalopathy

Primary Outcome Measure

Biomarker Brain Injury Chronology [ Time Frame: 2 Years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Children's National Research InstituteWashington D.C.District of Columbia20010
Katie Rice, MPH, CCRP
[email protected]
Nicholas Ah Mew, MD (PRINCIPAL_INVESTIGATOR)

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