Actively Recruiting
Systemic Biomarkers of Brain Injury From Hyperammonemia in Inherited Metabolic Disorders and Related Conditions
Led by Children's National Research Institute · Updated on 2024-02-07
24
Participants Needed
1
Research Sites
43 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
This research investigates brain injury biomarkers in patients with inherited hyperammonemic disorders and other metabolic conditions. High ammonia levels in the blood can harm the brain, causing swelling, blood vessel problems, intellectual disabilities, and in severe cases, coma or death. The study aims to understand the timing of brain injury markers during hyperammonemic episodes and to explore these markers in other metabolic diseases like Maple Syrup Urine Disease and Glutaric Acidemia. Participants include those diagnosed with specific urea cycle disorders, organic acidemias, fatty acid oxidation disorders, or hypoxic-ischemic encephalopathy. The study involves collecting and analyzing blood samples for biomarkers S100B, NSE, and UCHL1 during hospital stays and outpatient visits. These measurements will track biomarker changes alongside blood ammonia levels and neurological status. Patients will be enrolled during hospitalizations or preferably at outpatient visits, where leftover blood samples from routine tests are used. Biomarker levels will be measured sequentially during hospital stays until ammonia and mental status normalize, and again at follow-up outpatient visits to assess recovery. Researchers will monitor biomarker patterns over up to two years to better understand brain injury progression and recovery in these conditions.
CONDITIONS
Brief Title
Systemic Biomarkers of Brain Injury From Hyperammonemia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 7 and 18 years
- Diagnosis of one of seven urea cycle disorders: NAGS, CPSD, OTCD, ASD, ALD, AD, or HHH
- Diagnosis of one of two organic acidemias: Propionic Acidemia or Methylmalonic Acidemia
- Diagnosis of Maple Syrup Urine Disease or Glutaric Acidemia (GA1) 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 other investigational drug, biologic, or therapy
- Any clinical or laboratory 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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 2 years
Participants have blood samples collected from discarded laboratory tests during outpatient visits and hospitalizations to measure biomarkers of brain injury and ammonia levels.
Visits during hospitalizations and outpatient visits as clinically indicated
Duration - Up to 2 years
Participants are followed up after hospitalization to determine if biomarker levels return to baseline during subsequent outpatient visits.
Visits during outpatient follow-up as clinically indicated
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
N
Nicholas Ah Mew, MD
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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