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Goals, Mission & Vision


The UCDC is dedicated to improving the lives of individuals affected by urea cycle disorders. The mission of the UCDC is to understand the natural history of the urea cycle disorders, conduct clinical research and clinical trials to discover new treatments, form partnership with patients, patient advocacy groups, and other stakeholders and train the next generation of rare disease investigators.

We hope to accomplish our goals by:

  • Continuing the enrollment of a large group of patients with urea cycle disorders into an observational study called the Longitudinal Study of Urea Cycle Disorders. In this study, subjects are followed over time and clinical, neuropsychological, laboratory and other data are collected at regular intervals.
  • Conducting clinical trials of promising new therapies for the treatment of urea cycle disorders.
  • Establishing a patient contact registry.
  • Discovering new laboratory markers of disease that will lead to better treatment and deeper scientific understanding of the causes of these diseases.
  • Working with the National Urea Cycle Disorders Foundation to help patients who wish to be involved in research connect with doctors conducting the research.
  • Constructing and maintaining an electronic website resource with updated information for clinicians, researchers, and patients.
  • Mentoring and training junior investigators in UCD and rare diseases research.


The UCDC works to achieve its mission through four major goals:

  1. Further the understanding of the natural history of urea cycle disorders.
  2. Develop and conduct clinical research and clinical trials to discover new therapies that improve survival and outcome.
  3. Create resources with information on urea cycle disorders for clinicians, researchers, and patients.
  4. Train the next generation of rare disease investigators, particularly in the field of UCD.