Identifying brain injury biomarkers in patients with high ammonia levels

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.