|Principal Investigator: NicolaLongo|
|Keywords: UCD , Ravicti , Urea Cycle Disorder , Thrive||Department: Pediatric Genetics|
|IRB Number: 00072336||Co Investigator: Lorenzo Botto|
|Specialty: Pediatric Genetics|
|Sub Specialties: Medical Genetics|
To characterize the demographics and clinical course of the patient population diagnosed with UCD
To track growth and neurocognitive outcomes for patients with UCDs.
To generate comparative effectiveness data in UCD patients.
This is a multi-center, prospective, non-interventional study designed to collect data on safety and outcomes in patients with UCDs. It is designed to permit all interested healthcare providers to participate as Investigators, and all interested patients to participate. No controls are planned. Patients enrolled in this registry will be required to provide a select set of data at baseline and to undergo regular office visits and data collection, as indicated in Appendix A.
A patient must meet all of the following criteria to be eligible for participation in the study.
1. Confirmed or suspected diagnosis of UCD.
2. Signed informed consent and HIPAA Authorization, by the patient or a legally acceptable representative, obtained before any study-related activities are undertaken. Assent should be obtained from pediatric patients according to local regulations.
3. Signed medical records release form, by the patient or a legally acceptable representative, permitting abstraction of the patient’s medical records at Baseline and during participation in the study.
A patient who meets any of the following criteria is not eligible for participation in the study.
1. Any other reason that, in the Investigator's opinion, makes the patient unsuitable to participate in this study.