Systemic Biomarkers of Brain Injury From Hyperammonemia

Launched by CHILDREN'S NATIONAL RESEARCH INSTITUTE · Oct 20, 2020

Keywords

ClinConnect Summary

This clinical trial is studying how high levels of ammonia in the blood can damage the brain and lead to serious health issues. Ammonia is a waste product from protein breakdown, and when it builds up, it can cause swelling in the brain and affect thinking and development. The researchers want to learn about specific markers in the blood that can show when brain injury happens due to high ammonia levels. They will also look at how these markers change in people with other related metabolic disorders, like Maple Syrup Urine Disease and Glutaric Acidemia.

To participate in this study, individuals aged 25 to 65 who have been diagnosed with certain inherited disorders that cause high ammonia levels, or other metabolic conditions, may be eligible. Participants will provide blood samples to help researchers track changes in these brain injury markers. It’s important to note that individuals who have had organ transplants or are using other experimental treatments may not be able to join the study. This trial aims to improve our understanding of how ammonia affects the brain, which could help develop better treatments in the future.

Gender

ALL

Eligibility criteria

• 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