RECRUITING

Systemic Biomarkers of Brain Injury From Hyperammonemia

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Conditions

Urea Cycle DisorderOrganic AcidemiaMaple Syrup Urine DiseaseGlutaric Acidemia IFatty Acid Oxidation DisorderHypoxic-Ischemic EncephalopathyN-acetylglutamate Synthetase DeficiencyCarbamyl Phosphate Synthetase DeficiencyOrnithine Transcarbamylase DeficiencyArgininosuccinate Synthetase DeficiencyArgininosuccinate Lyase DeficiencyArginase DeficiencyHyperammonemia-Hyperornithinemia-HomocitrullinuriaMedium Chain-Acyl CoA Dehydrogenase DeficiencyVery Long Chain-Acyl CoA Dehydrogenase DeficiencyTrifunctional Protein DeficiencyLong Chain Hydroxyacyl-CoA Dehydrogenase DeficiencyCarnitine Palmitoyltransferase I or II DeficiencyCarnitine/Acylcarnitine Translocase DeficiencyPrimary Carnitine Transport Deficiency

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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).

Official Title

Systemic Biomarkers of Brain Injury From Hyperammonemia

Quick Facts

Study Start:2020-07-09
Study Completion:2027-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04602325

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:7 Years to 18 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Inherited Hyperammonemias:
  2. 1. A clinical diagnosis of 1 of 7 diagnosed urea cycle disorders:
  3. * N-acetylglutamate Synthetase Deficiency (NAGS)
  4. * Carbamyl Phosphate Synthetase Deficiency (CPSD)
  5. * Ornithine Transcarbamylase Deficiency (OTCD)
  6. * Argininosuccinate Synthetase Deficiency (ASD)
  7. * Argininosuccinate Lyase Deficiency (ALD)
  8. * Arginase Deficiency (AD)
  9. * Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH)
  10. 2. A clinical diagnosis of 1 of 2 organic acidemias:
  11. * Propionic Acidemia (PA)
  12. * Methylmalonic Acidemia (MMA)
  13. 2. Acute metabolic disorder without hyperammonemia, with neurological sequelae
  14. 1. Maple Syrup Urine Disease (MSUD)
  15. 2. Glutaric Acidemia (GA1)
  16. 3. Acute metabolic disorder without hyperammonemia and without neurological sequelae
  17. * Fatty Acid Oxidation Disorders:
  18. * Medium Chain-Acyl CoA Dehydrogenase Deficiency
  19. * Very Long Chain-Acyl CoA Dehydrogenase Deficiency
  20. * Trifunctional Protein Deficiency
  21. * Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
  22. * Carnitine Palmitoyltransferase I or II Deficiency
  23. * Carnitine/Acylcarnitine Translocase Deficiency
  24. * Primary Carnitine Transport Deficiency
  25. 4. Hypoxic-Ischemic Encephalopathy
  1. * Prior Solid-Organ Transplant
  2. * 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

Contacts and Locations

Study Contact

Katie Rice, MPH, CCRP
CONTACT
202-476-6191
krice3@childrensnational.org
Nicholas Ah Mew, MD
CONTACT
202-476-5863
nahmew@childrensnational.org

Principal Investigator

Nicholas Ah Mew, MD
PRINCIPAL_INVESTIGATOR
Children's National Research Institute
Ljubica Caldovic, PhD
STUDY_CHAIR
Children's National Research Institute

Study Locations (Sites)

Children's National Research Institute
Washington, District of Columbia, 20010
United States

Collaborators and Investigators

Sponsor: Children's National Research Institute

  • Nicholas Ah Mew, MD, PRINCIPAL_INVESTIGATOR, Children's National Research Institute
  • Ljubica Caldovic, PhD, STUDY_CHAIR, Children's National Research Institute

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-07-09
Study Completion Date2027-05

Study Record Updates

Study Start Date2020-07-09
Study Completion Date2027-05

Terms related to this study

Keywords Provided by Researchers

  • N-acetylglutamate Synthetase Deficiency
  • Carbamyl Phosphate Synthetase Deficiency
  • Ornithine Transcarbamylase Deficiency
  • Argininosuccinate Synthetase Deficiency
  • Argininosuccinate Lyase Deficiency
  • Arginase Deficiency
  • Hyperammonemia-Hyperornithinemia-Homocitrullinuria
  • 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

Additional Relevant MeSH Terms

  • Urea Cycle Disorder
  • Organic Acidemia
  • Maple Syrup Urine Disease
  • Glutaric Acidemia I
  • Fatty Acid Oxidation Disorder
  • Hypoxic-Ischemic Encephalopathy