Systemic Biomarkers of Brain Injury From Hyperammonemia

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 7
Maximum Age: 18
Healthy Volunteers: No
View:

• 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

Locations
United States
Washington, D.c.
Children's National Research Institute
Recruiting
Washington
Contact Information
Primary
Katie Rice, MPH, CCRP
krice3@childrensnational.org
202-476-6191
Backup
Nicholas Ah Mew, MD
nahmew@childrensnational.org
202-476-5863
Time Frame
Start Date: July 9, 2020
Estimated Completion Date: May 2024
Participants
Target number of participants: 24
Treatments
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 + Neurological Sequelae
Acute metabolic disorder without hyperammonemia but with neurological sequelae:~Maple Syrup Urine Disease (MSUD)~Glutaric Acidemia (GA1)
Fatty Acid Oxidation Disorders
Acute metabolic disorder without hyperammonemia and without neurological sequelae:~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
Patients with hypoxic-ischemic encephalopathy

This content was sourced from clinicaltrials.gov

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