Longitudinal Study of Urea Cycle Disorders
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 h
| Condition(s) | Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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. |
| Who can participate | Inclusion Criteria: * 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 challen |
| Sex | All |
| Lead sponsor | Andrea Gropman |
| Locations | Los Angeles, California, United States; Stanford, California, United States; Aurora, Colorado, United States; Washington D.C., District of Columbia, United States; Boston, Massachusetts, United States; Minneapolis, Minnesota, United States (+9 more sites) |
| Start date | 2006-02 |
| NCT ID | NCT00237315 |
| Official listing | https://clinicaltrials.gov/study/NCT00237315 |