Identifying brain injury biomarkers in patients with high ammonia levels
Systemic Biomarkers of Brain Injury From Hyperammonemia
This study is testing if certain brain injury markers in patients with high ammonia levels can help us understand how ammonia affects the brain and improve care for those with related metabolic disorders.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 24 (estimated) |
| Ages | 7 Years to 18 Years |
| Sex | All |
| Sponsor | Children's National Research Institute Academic / other |
| Locations | 1 site (Washington D.C., District of Columbia) |
| Trial ID | NCT04602325 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the timeline of brain injury biomarkers in patients suffering from inherited hyperammonemic disorders. It focuses on measuring the levels of S100B, NSE, and UCHL1 in relation to blood ammonia levels during hospitalizations for hyperammonemia. Additionally, the study will assess whether these biomarkers are altered in patients with other metabolic disorders, such as Maple Syrup Urine Disease and Glutaric Acidemia. The findings could provide insights into the neurotoxic effects of ammonia and help in managing these conditions more effectively.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with inherited hyperammonemias or specific organic acidemias, such as Maple Syrup Urine Disease.
Not a fit: Patients without any form of hyperammonemia or related neurological conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and treatment strategies for patients with hyperammonemia-related brain injuries.
How similar studies have performed: While the approach of identifying biomarkers in response to hyperammonemia is not widely tested, similar studies have shown promise in understanding metabolic disorders.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Washington D.C., District of Columbia
- Children's National Research Institute — Washington D.C., District of Columbia, United States (Recruiting)
Study contacts
- Principal investigator: Nicholas Ah Mew, MD — Children's National Research Institute
- Study coordinator: Katie Rice, MPH, CCRP
- Email: krice3@childrensnational.org
- Phone: 202-476-6191
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.