Actively Recruiting
Systemic Biomarkers of Brain Injury From Hyperammonemia
Led by Children's National Research Institute · Updated on 2024-02-07
24
Participants Needed
1
Research Sites
355 weeks
Total Duration
On this page
Sponsors
C
Children's National Research Institute
Lead Sponsor
N
National Center for Advancing Translational Sciences (NCATS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Systemic Biomarkers of Brain Injury From Hyperammonemia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinical diagnosis of one of seven urea cycle disorders: N-acetylglutamate Synthetase Deficiency, Carbamyl Phosphate Synthetase Deficiency, Ornithine Transcarbamylase Deficiency, Argininosuccinate Synthetase Deficiency, Argininosuccinate Lyase Deficiency, Arginase Deficiency, or Hyperammonemia-Hyperornithinemia-Homocitrullinuria
- Clinical diagnosis of one of two organic acidemias: Propionic Acidemia or Methylmalonic Acidemia
- Diagnosis of Maple Syrup Urine Disease or Glutaric Acidemia with neurological effects
- Diagnosis of fatty acid oxidation disorders including 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, or Primary Carnitine Transport Deficiency
- Diagnosis of Hypoxic-Ischemic Encephalopathy
You will not qualify if you...
- Prior solid-organ transplant
- Use of any investigational drug, biologic, or therapy
- Any clinical or lab abnormality or medical condition that may interfere with biomarker measurements as determined by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Children's National Research Institute
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
Research Team
K
Katie Rice, MPH, CCRP
CONTACT
N
Nicholas Ah Mew, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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