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Longitudinal Study of Urea Cycle Disorders

This study is looking at Urea Cycle Disorders (UCDs), which are rare genetic conditions where the body has trouble breaking down protein, leading to a buildup of a harmful substance called ammonia. Researchers want to understand how these disorders progress over time, how different treatments like alternate pathway therapy and transplantation affect people, and what changes in the body might predict future health problems. You could be eligible if you have a diagnosed UCD, such as NAGS deficiency or CPS I deficiency, confirmed by genetic testing or enzyme activity levels. The study aims to understand the prevalence of severe symptoms and the relationship between various body markers and how severe the disease is. The study is currently ongoing.

Study design
This is an observational study that plans to include 1500 participants with Urea Cycle Disorders.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study will measure outcomes at the end of the study, but the specific duration of follow-up is not detailed.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00237315

Longitudinal Study of Urea Cycle Disorders

UNKNOWN
Not specifiedAll AgesObservational
Andrea Gropman
~1,500 participants
Updated 2024-02-13 on ClinicalTrials.gov

At a glance

Recruiting sites
15 of 15 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Prevalence of specific morbid indicators of disease severity
Measured over End of study
+2 more outcomes measured

Conditions

Brain Diseases, Metabolic, Inborn
Amino Acid Metabolism, Inborn Errors
Urea Cycle Disorders

Explore related trials

ArgininemiaArgininosuccinic AciduriaCarbamoyl Phosphate Synthase 1 DeficiencyCitrullinemia Type ICitrullinemia Type IIHyperornithinemia-Hyperammonemia-Homocitrullinuria SyndromeN-Acetylglutamate Synthase DeficiencyOrnithine Carbamoyltransferase Deficiency DiseaseUrea Cycle Metabolism Disorder

Where it's being run

15 sites across 14 states
California2
Colorado1
District of Columbia1
Massachusetts1
Minnesota1
New York1
Ohio1
Oregon1

Study leadership

  • Andrea Gropman, MD · STUDY_CHAIR · Children's National Research Institute
  • Susan Berry, MD · STUDY_CHAIR · University of Minnesota Masonic Children's Hospital

Who to contact

Jennifer Seminara, MPH
[email protected]
202-306-6489
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Diagnosis of NAGS deficiency, defined as the detection of a pathogenic mutation, and/or decreased (less than 20 % of control) NAGS enzyme activity in liver ,and/or hyperammonemia and first degree relative meets at least one of the criteria for NAGS deficiency
Diagnosis of CPS I deficiency, defined as decreased (less than 20 % of control) CPS I enzyme activity in liver, and/or an identified pathogenic mutation, and/or hyperammonemia and first degree relative meets at least one of the criteria for CPS I deficiency
Diagnosis of OTC deficiency, defined as the identification of a pathogenic mutation, and/or less than 20% of control of OTC activity in the liver, and/or elevated urinary orotate (greater than 20 uM/mM) in a random urine sample or after allopurinol challenge test, and/or hyperammonemia and first degree relative meets at least one of the criteria for OTC deficiency
Diagnosis of AS deficiency (Citrullinemia), defined as a greater than or equal to 10-fold elevation of citrulline in plasma, and/or decreased AS enzyme activity in cultured skin fibroblasts or other appropriate tissue, and/or identification of a pathogenic mutation in the AS gene, and/or hyperammonemia and first degree relative meets at least one of the criteria for AS Deficiency
Diagnosis of AL deficiency (Argininosuccinic Aciduria, ASA), defined as the presence of argininosuccinic acid in the blood or urine, and/or decreased AL enzyme activity in cultured skin fibroblasts or other appropriate tissue, and/or identification of a pathogenic mutation in the AL gene, and/or hyperammonemia and first degree relative meets at least one of the criteria for AL Deficiency
Diagnosis of ARG deficiency (Hyperargininemia), defined as a greater than or equal to 5-fold elevated arginine levels in the blood, and/or decreased arginase enzyme levels in red blood cells or other appropriate tissue, and/or identification of a pathogenic mutation in the ARG gene, and/or hyperammonemia and first degree relative meets at least one of the criteria for ARG Deficiency
Diagnosis of HHH Syndrome or ORNT deficiency, defined as a greater than or equal to 5-fold elevated plasma ornithine and homocitrulline levels in the urine, and/or a pathogenic mutation, and/or less than 20% residual labeled ornithine incorporation into protein in cultured fibroblasts, and/or hyperammonemia and first degree relative meets at least one of the criteria for HHH Syndrome or ORNT Deficiency
Diagnosis of CITR deficiency (Citrullinemia Type II), defined as elevated citrulline levels in the blood and a pathogenic mutation and/or hyperammonemia and first degree relative meets criteria for CITR Deficiency
Pending diagnosis of a UCD (UCD highly likely), defined as laboratory values highly suggestive of a UCD with symptomatic hyperammonemic episodes but without a verifiable diagnosis

Exclusion

Hyperammonemia caused by an organic academia, lysinuric protein intolerance, mitochondrial disorder, congenital lactic academia, fatty acid oxidation defects, or primary liver disease
Rare and unrelated comorbidities (e.g., Down's syndrome, intraventricular hemorrhage in the newborn period, and extreme prematurity)

What this trial measures

  • Prevalence of specific morbid indicators of disease severityEnd of study

    hyperammonemia, developmental disabilities, long-term renal and hepatic effects, and case-fatality associated with the various forms of UCD

  • Relationship between various biomarkers and disease severity and progressionEnd of study

    correlation between glutamine, ammonia, liver function (biomarkers) and severity scale and IQ in terms of outcome

  • Safety and efficacy of currently used and new UCD therapiesEnd of study

    Interim events related to treatments (drugs, diet or liver transplant)