Hope for the Future - Help Move Research Forward

In the past three years, there has been a dramatic increase in much-needed urea cycle disorder research, including the formation of the Urea Cycle Disorders Consortium (UCDC) as part of the National Institutes of Health Office of Rare Diseases Clinical Research Network (RDCRN).  According to the Office of Rare Diseases, a rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. About 6,000 such disorders have been identified, impacting an estimated 25 million Americans. Few drug companies conduct research into rare diseases since there is little chance to recoup the costs of developing treatments for such small, geographically dispersed populations. Recognizing the significant barriers to rare disease research, the National Institutes of Health provided $71 million to ten rare disease research consortia through a highly competitive grant to encourage research into diseases such as Angelman, Rett and Prader Willi syndromes, rare lung diseases, rare liver diseases, and urea cycle disorders. The consortia are also charged with training young physicians and researchers in these rare disorders. "Increased collaboration among researchers investigating rare diseases will not only lead to discoveries that will help prevent and treat these conditions, but may also produce medical advances that will benefit the population in general,” said Stephen Groft, Pharm.D., Director of NIH's Office of Rare Diseases.

The Urea Cycle Disorders Consortium (UCDC) is headed by principal investigator, Mark Batshaw, M.D., a pioneering researcher in the field of urea cycle disorders. The UCDC is a collaborative effort bringing top researchers, clinicians and other healthcare professionals together to work collectively to improve the lives of patients with urea cycle disorders.  There are currently twelve UCD research centers across the U.S., as well as sites internationally in Toronto and Zurich.  Other researchers and clinicians are invited to participate in the UCD Consortium efforts, and to join us in moving our research forward as quickly as possible.

As a partner in the UCD Consortium, the role of the National Urea Cycle Disorders Foundation is to provide input regarding the development of new studies, provide information to our families and affected individuals about the studies and how they can participate in moving research forward, to educate medical professionals and policymakers about our research needs, and to provide insight about improving the quality of life for those living with UCDs.

Research Registry

The Urea Cycle Disorders Consortium maintains a Research Registry for UCD-affected individuals and families who are interested in enrolling in studies, or may become interested in future studies.  By enrolling in the Research Registry, you will receive semi-annual updates on research studies that are open for enrollment. (Click here to go to the UCDC Research Registry.) Please note: This is a Research Registry only, governed by HIPAA (Privacy Act) standards; no individual researcher or institution representative will have access to your contact information or contact you directly. The updates you receive will include information about current studies and the contact information of the study coordinator.  You may then contact the coordinator directly if you are interested in enrolling in a study. The Research Registry is separate from and not affiliated with the National Urea Cycle Disorders Foundation.

Questions and Information

If you have questions about current studies, or would like more information on participating in the studies, please contact:

Cynthia  Le Mons, Executive Director, National Urea Cycle Disorders Foundation at CureUCD(at sign)nucdf.org.