CLINICAL TRIALS FOR HPN-100 (INVESTIGATIONAL NEW DRUG FOR UCDs): Many UCD families and patients have experienced major difficulties with administration (giving the drug), compliance (tolerating the daily regimen) or tolerance of side effects of Buphenyl® (sodium phenylbutyrate). An investigational drug, related to Buphenyl® in chemical structure, is being studied for use in urea cycle disorders. This investigational drug, called HPN-100, is a nearly tasteless, odorless liquid formulation which is intended to work similarly to Buphenyl in removing ammonia, but without the pill burden or need to mask taste. Three teaspoons of HPN-100 equals approximately 40 tablets of sodium phenylbutyrate. The sponsor of the trial, Hyperion Therapeutics, will provide HPN-100 free of charge to trial participants and cover the costs of laboratory tests and physician visits associated with the trial, as well as reasonable travel expenses to a trial location. Phase II and III pediatric and adult clinical trials are open at over 20 research sites in the U.S.
More information and a list of participating centers here.
For information or questions about clinical trials for UCDs click here.
CLINICAL TRIAL FOR CARBAGLU EXPANDED: This research study is now being expanded to partial CPS and OTC deficiencies, as well as to two other inborn errors of metabolism, propionic acidemia and methylmalonic aciduria. The study measures the effect of the medication Carbaglu on the rate at which the body converts ammonia into urea (ureagenesis). Participants must travel to Children's National Medical Center in Washington, DC for 4 day-long study (travel and lodging paid). Participants will be studied twice, off NCLG, and three days following oral administration of the drug. Details here.
Help Move Research Forward - Participate in a Research Study
NUCDF President Tresa Warner talks about her family's participation in the Longitudinal Study of Urea Cycle Disorders, and thanks the National Institutes of Health for its support of the Urea Cycle Disorders Consortium
We can make a difference and help end the devastating effects of urea cycle disorders.
Please support NUCDF and participate in UCD research!
NUCDF Sponsors International Scientific Symposium "Overcoming Barriers-New Developments and Future Directions in Urea Cycle Disorders.": In August 2009, NUCDF implemented the three-year vision of Executive Director Cindy Le Mons to organize and host an international scientific symposium to serve as a springboard for innovative research collaborations and to stimulate focused research over the coming years. NUCDF developed an outstanding scientific program to spotlight the most recent research findings in basic, translational and therapeutic investigations for ICDs. Over 250 clinicians and researchers from 23 countries attended the two-day meeting, consisting of invited lectures by a distinguished group of renowned clinicians and international scientists, a poster session and presentation of abstracts. The format also included formal and informal discussions designed to ignite new thoughts about theory and research directions. A special half-day session was held on the effects of UCD on brain function, focusing on neuroprotection, with presentations by world-renowned neuroscientists. This is the first time neuroscientists have been brought together to focus specifically on urea cycle disorders, as part of NUCDF's new research incentive "The Brain Project," to accelerate research to end the devastating effects of UCD on brain function. The proceedings of the symposium were published in May 2010 as a special supplement in Molecular Genetics and Metabolism. To invest your support in NUCDF's Brain Project DONATE.
Baby Steps - Learn the Signs, Act Early:
Helps parents measure their children's developmental progress by monitoring how they play, learn, speak and act. Early recognition of developmental disabilities is critical for obtaining early intervention for children with urea cycle disorders.
Put Your Hands Together: Learn how to help stop the spread of colds and flu and stay healthy.
Plate Full of Color: Teaches kids the value of eating a variety of colorful and healthy foods.
NUCDF Announces 2010 Fellowship Grant
The purpose of the NUCDF's Fellowship Grant is to improve the quality of care for UCD-affected individuals by attracting promising new clinicians and researchers with interest in biochemical genetics to the field of urea cycle disorders. The Fellowship helps support postdoctoral fellows specialize and focus on research, clinical treatment and coordination of multidisciplinary care of UCDs, while advancing the understanding and treatment of our disorders.
Date of RFA: January 29, 2010; Letters of Intent: April 15, 2010; Final Submission: May 25, 2010
Baby Mitchell has argininosuccinic aciduria (ASA) detected by newborn screening, saving him from potentially devastating hyperammonemia crisis. His family is active in supporting NUCDF's mission, raising awareness of UCDs and spreading the word that newborn screening saves lives.
NCAA assistant basketball coach, Jeff Strohm, left his promising career after two of his daughters were diagnosed with a urea cycle disorder, argininosuccinic aciduria (ASA). The journey began when ASA was detected in one of his twin girls on newborn screening. After learning about the symptoms of ASA, the Strohms realized their 5-year-old daughter had been showing signs, and she was then also diagnosed with ASA. The Strohm's are committed to helping NUCDF raise awareness and support research. Now with Triple Crown Sports, Jeff has organized an NCAA tournament in November, "Cancun Challenge," which is helping raise awareness of urea cycle disorders.
The Wall Street Journal: Addressing the Fallout of Newborn Screening
Government and Researchers Seek to Reduce False Positives, Improve Physician Education and Follow-Up for Families: The recent adoption of widespread screening of newborns for congenital health problems is saving thousands of lives every year, identifying potentially deadly conditions in time to begin treatment... Click Here for More Information
Mark Batshaw, M.D., Principle Investigator for the Urea Cycle Disorders Consortium and member of the NUCDF Medical Advisory Board, was interviewed by Good Morning America for a segment that aired May 7, 2006. The segment profiled the Rare Diseases Clinical Research Centers, sponsored by the National Institutes of Health. The segment focused on our Urea Cycle Disorders Consortium as an example of this pioneering NIH project.
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"BAGS FOR MITCH"
