RECRUITINGOBSERVATIONAL
Systemic Biomarkers of Brain Injury From Hyperammonemia
About This Trial
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).
Who May Be Eligible (Plain English)
Who May Qualify:
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
Who Should NOT Join This Trial:
- 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
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
Inclusion 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
Exclusion Criteria:
* 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
Locations (1)
Children's National Research Institute
Washington D.C., District of Columbia, United States