Long-Term Registry of Patients with Urea Cycle Disorders (UCDs)
Detailed DescriptionThe main goal of medical management of Urea Cycle Disorder (UCD) patients is to prevent chronic or acute hypperammonemic states leading to central nervous damage- which requires a restriction in dietary protein intake and using nitrogen scavenging agents if diet alone does not help the patients.The objective of this study is to characterize the demographic of the patient population diagnosed with UCD. Another objective is to track growth and neuro-cognitive outcomes for patients with UCDs. Patient participation includes the collection of retrospective and baseline data including ammonia and glutamine levels. Age appropriate questionaires will be given for completion by subject or parent. . Data will be collected on all individuals who are enrolled. The patient population are patients with an established or suspected diagnosis of UCD. The patient or legally acceptable representative must also sign and release an informed consent/HIPPA Authorization and medical records.The study procedures are for each study personnel to be trained for all documentation, baseline visits and enrollment for patients, and retrospective data for ammonia values obtained from the patient will be entered in the registry. The outcome variables will be the control of blood ammonia levels and the frequency of the serious adverse events (SAEs). Blood ammonium levels, and the frequency of hyperammonemic crisis will be observed during this study.The statistical analysis plan (SAP) will show details of all analysis and presentation of study data. Data will be shown to patients who attend the baseline visit, and analysis will be based on all the patients who are enrolled. Post baseline values or change from the baseline outcome variables will be summarized by UCD medication with statistics and graphical presentations.
Inclusion and Exclusion Criteria
- Confirmed or suspected diagnosis of UCD
- Signed informed consent/Health Insurance Portability and Accountability Act (HIPAA) Authorization and medical records release
- Any other reason that, in the Investigator's opinion, makes the patient unsuitable to participate in this study.
Please contact the trial administrator to learn more about where you can participate in this trial. Please use the contact form on the right side.