Hope for the Future - Advancing Research
In the past five 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).
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 research collaborative, bringing together top researchers, clinicians and other healthcare professionals to work collectively to improve the lives of patients with urea cycle disorders.
As a partner in the UCD Consortium, one of the key roles of the National Urea Cycle Disorders Foundation (NUCDF) is to provide critical input regarding the need for and development of new studies. NUCDF's unique perspective as the center of the UCD community provides insight to researchers about treatment and management issues, as well as focus for key research priorities. NUCDF also provides information to our families and affected individuals about research studies and how they can participate in moving critical research forward.
NUCDF believes that it is critical to invest in a clinical research infra-structure to enable us to find safe and effective treatments for UCDs, ensure patient access to expert care, and to accomplish our ultimate goal of a cure. There are currently twelve UCD Consortium clinical research centers across the U.S., as well as two international sites in Toronto and Zurich. Researchers and clinicians all over the world are invited to participate in the UCD Consortium efforts, and to join us in advancing our research as quickly as possible.
What kind of research is being conducted?
There are three main types of research that can help improve the quality of life for UCD patients.
Basic Science Research is carried out in the laboratory, and is often referred to as "bench research." This research helps answer questions about the causes of UCD. It also plays a critical role in understanding processes in the body that are affected by UCDs, and provides a way to test potential therapies and drugs. This type of research is conducted on proteins, cells and animals. Basic science research provides clues and information that leads to more advanced research.
Translational Research (Drug Research): The National Institutes of Health (NIH) defines translational research as the process of applying discoveries generated during basic research and preclinical studies to the development of trials and studies in humans. Translational research enables knowledge from basic science research to be taken to the next level -- new drugs and treatments that can be tested in humans in clinical trials.
Clinical Research is patient-oriented research, conducted in human subjects or human tissues. By interacting with patients within a specific protocol, researchers can study the mechanisms of UCD, the efficacy of therapeutic interventions, and develop new technologies.
The Urea Cycle Disorders Consortium is currently conducting clinical research studies on the natural history of UCD by following patients over an extended period of time. This helps researchers understand the indicators of disease severity (hyperammonemia, developmental disabilities, long-term neurologic and liver effects, etc.), how commonly they occur, potential triggers, as well as safety and effectiveness of currently used treatments and therapies. Researchers are also studying the relationships between disease severity and progression within the different urea cycle disorders themselves. This research will ultimately lead to development of new treatments and drugs for UCD.
Other UCD Consortium clinical research projects focus on under-standing mechanisms of brain injury and testing new treatments in UCD patients. Patient participation in these studies is critical to driving research momentum, improving the lives of patients now, and reaching our goal of ending the devastating effects of UCDs.
Partnering for Progress - Drug Trials
Because of the limited patient population, high expense and small profit potential associated with development of drugs for rare diseases, historically there has been limited interest from pharmaceutical companies in developing drugs for UCDs. NUCDF actively seeks to develop partnerships and collaborations with researchers, biotechnology and pharmaceutical companies, as well as government agencies to advance research for UCD treatments. NUCDF is engaged in supporting a drug research pipeline of potential drugs in all phases of development. For information on clinical trials currently being conducted for UCD, visit our UCD Clinical Trials page.
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. 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 generated by the Research Registry 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. (Click here to go to the UCDC Research Registry.)
Questions and Information
If you have questions about current studies or trials, or would like more information on how you can participate, please contact:
Cynthia Le Mons, Executive Director, National Urea Cycle Disorders Foundation
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