Health TrialsbyHealthPanel

Longitudinal Study of Urea Cycle Disorders

ConditionsBrain Diseases, Metabolic, InbornAmino Acid Metabolism, Inborn ErrorsUrea Cycle Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorAndrea Gropman

About this trial

Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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)

Trial population

Enrollment goal: 1,100 participants

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

Prevalence of specific morbid indicators of disease severity

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

Time frame
End of study
2

Relationship between various biomarkers and disease severity and progression

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

Time frame
End of study
3

Safety and efficacy of currently used and new UCD therapies

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

Time frame
End of study

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Andrea Gropman

Lead sponsor

Children's National Research Institute

Sponsor institution

National Center for Research Resources (NCRR)

Collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Collaborator

Rare Diseases Clinical Research Network

Collaborator

Source ClinicalTrials.gov
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