We know Urea Cycle Disorders. We live to conquer them.
GET HELP AND SUPPORT:Do you need support, information on diagnosis, or help learning how to manage a urea cycle disorder? Tell us your story. We're here to help with credible information, support. Network with other UCD patients and families in our vibrant private online community. Email or call us at (626)578-0833 (Pacific Standard Time) GET INFORMATION:Learn more about UCD. We're here to answer your questions.
STAY INFORMED: Keep up with the latest information on treatments, management and research.
News and Announcements
UPDATE: Feb 1, 2013 FDA APPROVES RAVICTI FOR TREATMENT OF UCD (ages 2 years and over):Many urea cycle disorder patients have experienced major difficulties with tolerance, compliance or side effects of Buphenyl® (sodium phenylbutyrate). A new drug, Ravicti, manufactured by Hyperion Therapeutics, has received FDA approval for use in urea cycle patients 2 years old and over. Ravicti is related to Buphenyl® in chemical structure, but 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. Clinical trials showed improved patient compliance and control of ammonia, including stabilization of fluctuations throughout the day and overnight. Both children and adults in the trial demonstrated improved cognitive function on Ravicti.1 This milestone in therapeutic treatment for UCD is the result of a 10-year effort to develop the drug, involving a model collaborative partnership between Hyperion Therapeutics, NUCDF and UCD families, and our UCD medical experts working together to improve quality of life for UCD patients.
Ravicti is now available through a specialty pharmacy distribution center. Ravicti will not be available at any retail pharmacies. Physicians and patients can submit a prescription to the specialty pharmacy. The manufacturer's Ravicti support center should not be relied on for UCD management information or support, but can answer questions regarding insurance reimbursement.
1. Diaz GA, Krivitzky LS, Mokhtarani M, et al.Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2012 Sep
NUCDF to Co-Host International Scientific Symposium Sept 2, 2013, Barcelona, Spain: NUCDF and the Urea Cycle Disorders Consortium will co-host the 2013 International UCD Symposium for scientists and clinicians at the International Congress on Inborn Errors of Metabolism in Barcelona. The symposium is a followup to NUCDF's 2009 International Scientific Symposium in La Jolla, CA, "Overcoming Barriers-New Directions and Future Developments for UCD." The 2009 meeting, attended by over 250 clinicians and researchers from 23 countries, served as a springboard for innovative research collaborations and stimulated focused research over the last three years. A special half-day session was held on the effects of urea cycle defects on brain function, focusing on neuroprotection, with presentations by world-renowned neuroscientists. This was 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 to the medical journal, Molecular Genetics and Metabolism. To invest your support in NUCDF's Brain Project DONATE.
USA TODAY STORY: Weight loss surgery (gastric bypass) triggers undiagnosed fatal urea cycle disorder in Tennessee wife and teacher. Story. More information about bariatric surgery and the risk for urea cycle disorder Here.
UK TELEGRAPH STORY: Dukan high-protein diet triggers undiagnosed OTC, leading to coma and near death for UK man.
ABC NEWS STORY: Featuring Dr. Lee's ASA Research (see update below) and NUCDF Family that participated in the study. Clinical trials being planned. Story
Stay updated at NUCDF's 2013 Annual Conference and by E-Newsletter.
2012 NUCDF Hoops for Hope NCAA Basketball Classic in Puerto Vallarta: Thanksgiving week set the stage for our inaugural event, with eight leading men’s college teams competing at four sites in the US and at the new state of the art Puerto Vallarta International Convention Center in November of 2012. This annual event will become a staple in the college basketball pre-season tournaments. Sponsored by the Missouri Valley Conference and organized by
Plan BC3 and Triple Threat Travel, LLC, proceeds benefit NUCDF to raise awareness and support for the fight to conquer urea cycle disorders. Details here.
University of San Diego hosted 2012 NUCDF Basketball Challenge: Awareness of UCDs was raised in reports in the Wall Street Journal, Fox News and other media during in the NUCDF Basketball Challenge at the Jenny Craig Pavilion at University of San Diego (NCAA basketball's West Coast Conference). NCAA basketball teams from University of San Diego, California State University-Northridge, Northern Kentucky University, Siena College and Tulsa University competed in this prestigious 5-day event sponsored and hosted by the University of San Diego. Story here.
UPDATE: NUCDF FELLOWSHIP RESEARCH TEAM LED BY BRENDAN LEE, MD, PhD LEADS TO TRANSFORMATIONAL SCIENTIFIC DISCOVERY
NUCDF is proud to announce that the work of Dr. Lee and three NUCDF Fellows has resulted in a major discovery in ASA deficiency that transforms human science. The research has been published in Nature Medicine, a preeminent scientific journal, and challenges long-held theories about the role of nitric oxide in the human body as a regulator of cardiovascular health. The discovery is the result of research spanning several years conducted by three consecutive NUCDF Fellowship awardees, Ayelet Erez, MD, PhD, Oleg Shchelochkov, MD, and Sandesh Nagamani, MD. Dr. Stephen Cederbaum says of Dr. Lee's work, "He has transformed treatment of this rare condition and illustrates what one creative mind in the hands of an excellent and persistent scientist can do." NUCDF and our families are delighted beyond words that our investment in these three promising young scientists and Dr. Lee's work has resulted in this life-changing discovery.
"These findings open a door into ways to explore the effect of nitric oxide on a host of disorders. We hope it transforms the field,” said Dr. Lee in a recent press release. A renowned UCD expert, beloved champion of UCD families, and member of NUCDF's Medical Advisory board for over a decade, Dr. Lee has received the prestigious NIH Director's Award for Transformative Research.
UPDATE ON ARGININE THERAPY FOR ARGININOSUCCINIC ACIDURIA AND ITS EFFECTS ON LIVER DYSFUNCTION:
Urea Cycle Disorder Consortium research conducted by Dr, Brendan Lee at Baylor suggests low-dose arginine combined with sodium phenylbutyrate may decrease liver dysfunction in patients with ASA. Details
HELP MOVE RESEARCH FORWARD FOR NEWBORN SCREEN FOR OTC AND CPS1 DEFICIENCIES: A study to validate a newborn screen for OTC deficiency, CPS1, and potentially NAGS is being conducted to help identify infants affected with the disorders at birth. The pilot study has been successful in identifying cases, but more samples are needed to fully validate the screen. If your child is affected with OTC, CPS1 or NAGS, please consider releasing their newborn screening card to this research study. Most states store the NBS cards for several months; many store indefinitely and these samples can be accessed with your consent. Newborn screening is already available in most states for ASA lyase, citrullinemia and arginase deficiency, making it possible to identify and treat affected children early, resulting in significantly improved outcomes. Imagine the lives that would be saved and the neurological disabilities that could be avoided if all newborns were screened at birth for all the urea cycle disorders. Your help can make the difference!
UPDATE: NUCDF has formed a Task Force of experts in UCD to prepare the application required for submission to the Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns to request the addition of OTC deficiency to the HHS recommended newborn screening panel. After a ten-year struggle to find a way to screen newborns for OTC, we have light at the end of the tunnel. The above study is ongoing for OTC, CPS1 and NAGS screens, so please consider participating.
For more study details and consent forms, please contact Cindy Le Mons, NUCDF Executive Director at OTC/CPS/NAGS Screen Study
NUCDF RECEIVES 2010 ADVOCACY AWARD OF MERIT
NUCDF was chosen to receive the prestigious Child Neurology Foundation 2010 Advocacy Award of Merit. This national award
recognizes a patient support organization making outstanding achievements on behalf of patients and families with neurologic and developmental disorders. We are proud to have been recognized for our efforts and humbled to have been chosen from among over 20 outstanding organizations representing childhood epilepsy, autism and other neurodevelopmental disorders.
Our deep appreciation to Child Neurology Foundation for this award, and to all our NUCDF families and friends who so passionately and generously support our fight to conquer urea cycle disorders.
NUCDF ANNOUNCES 2011 FELLOWSHIP GRANT AWARDED TO SANDESH NAGAMANI, M.D.
The purpose of the NUCDF's Fellowship Grant is to improve the quality of care for urea cycle disorder-affected individuals by attracting promising new clinicians and researchers with interest in biochemical genetics to the field of urea cycle disorders. The NUCDF 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.
Our 2011 Fellowship was awarded to Dr. Sandesh Nagamani from Baylor College of Medicine at our recent NUCDF Family Conference in Denver on July 8-10. Dr. Nagamani is an outstanding candidate and extraordinarily talented researcher who will be continuing research studies on urea cycle disorders begun by our 2008 and 2009 NUCDF Fellowship awardees from Dr. Brendan Lee's lab at Baylor, Oleg Shchelochkov, M.D., and Aylet Erez, M.D., Ph.D.
For more about Dr. Nagamani and his commitment to UCD research and our UCD community click 2011 NUCDF Fellow
"IN TRIBUTE TO HER SON, CROY, OTC deficiency MOM DEBI WEST INSPIRES HER ART STUDENTS TO SUPPORT OUR CAUSE"
Help Move Research Forward - Participate in a Research Study
NUCDF President Tresa Warner (family with OTC deficiency) 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!
Stavas family is committed to helping NUCDF raise awareness that UCDs affect both children and adults. 55-year-old firefighter Jim Stavas fell into hyperammonemic coma from undiagnosed CPS1 deficiency after a simple sinus surgery and receiving medication, prednisone.
Unaware of an underlying urea cycle defect, ornithine transcarbamylase deficiency (OTC deficiency), 20-year-old hockey player Ben Pearson died after engaging in a high-protein diet. Our NUCDF families extend our heartfelt sympathies to the Pearson Family.
Families and researchers from all over the US gathered in Washington, DC to learn about the latest research, updates on treatment and management, and network with other UCD families and medical professionals.
Newborn Screen for OTC & CPS deficiencies: If your child was diagnosed with OTC or CPS1 deficiencies, release their state newborn screening card to help validate a test to screen newborns at birth for OTC and CPS deficiencies. Read more
Urea Cycle Nutrition and Immunity Study at National Institutes of Health to investigate the effects of the UCD diet on immune response. Peter McGuire, MD, Principal Investigator.
1) Studies using MRI techniques are being conducted to investigate the effects of UCD on brain function. Details HERE. For more information or how to participate contact NUCDF.
2)Study of past MRIs: If your child (or an affected adult) has had an MRI or EEG in the past, sign a consent to release the data to Dr. Andrea Gropman at Children's National Medical Center for reinterpretation by new software in a special study of effects of UCD on brain function. For more information contact NUCDF or Study CoordinatorDetails HERE