University of San Diego to host 2012 NUCDF Basketball Challenge: Plan BC3, Triple Threat Travel and the University of San Diego are pleased to announce the field has been set for the 2012 NUCDF Basketball Challenge in San Diego, California. NCAA basketball teams from University of San Diego, California State University-Northridge, Northern Kentucky University, Siena College and Tulsa University will compete in the tournament at the Jenny Craig Pavilion at University of San Diego (NCAA basketball's West Coast Conference). This prestigious multi-team, 5-day event is sponsored and hosted by the University of San Diego. Proceeds will benefit the National Urea Cycle Disorders Foundation to raise awareness, support and research for urea cycle disorders. Story here.
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.
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 our 2012 Conference and by E-Newsletter.
STUDIES BEGIN TO UNRAVEL THE MYSTERIES OF THE EFFECTS OF UCD ON BRAIN FUNCTION:NUCDF'S "Brain Project" stimulates and funds expansion of research - how does the brain respond to the effects of hyperammonemia? Are the effects reversible? Can we find ways to protect the brain from damage that could result in developmental delay or other neurological damage?
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 literally changes 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 our families, and member of our NUCDF Medical Advisory board for over a decade, Dr. Lee is also a recipient of the prestigious NIH Director's Award for Transformative Research. Can you tell we are proud of him and all our NUCDF Fellows!
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, CPS1 (and possibly NAGS) deficiencies is being conducted for use in identifying infants affected with these disorders at birth. The study screen has been successful in identifying cases in a pilot study, but more samples are needed to fully validate the screen. If your child is affected with OTC, CPS1 or NAGS, please consider releasing a piece of 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 almost all states for ASA lyase, citrullinemia and arginase deficiency, making it possible to identify and treat affected children early and 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 to help with the validation 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. NUCDF Executive Director, Cindy Le Mons, accepted the award on behalf of our organization during an awards ceremony at the annual conference of the Child Neurology Foundation, saying "It is such an honor and privilege to represent the families of NUCDF and to have our work on behalf of our UCD children recognized with this award. They are truly my heroes and my heart. NUCDF is dedicated to improving their lives, and we'll keep fighting tooth and nail for them until we defeat this disorder."
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"
UPDATE ON CLINICAL TRIALS FOR HPN-100 (INVESTIGATIONAL NEW DRUG FOR UCDs): An application for New Drug Approval (NDA) was filed with the FDA on December 23, 2011 and NUCDF is hopeful the drug will be approved and available by early 2013. Many urea cycle disorder 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, HPN-100, related to Buphenyl® in chemical structure, is being studied for use in urea cycle disorders to control blood ammonia levels. 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. Adult trials have been completed, and pediatric clinical trials for use in CPS1 deficiency (carbamyl phosphate synthetase deficiency) OTC deficiency (ornithine transcarbamylase deficiency), ASA (argininosuccinic aciduria or argininosucciate lyase deficiency), citrullinemia (argininosuccinic acid synthetase deficiency) and arginase deficiency are fully enrolled (closed to new participants) and in progress at research sites in the U.S.
CLINICAL TRIAL OF CARBAGLU FOR UREA CYCLE DISORDER TREATMENT EXPANDED: This research study is now being expanded to partial CPS (carbamyl phosphate synthetase) and OTC (ornithine transcarbamylase) deficiencies, as well as to two other inborn errors of metabolism, propionic acidemia and methylmalonic aciduria. The study will investigate whether a 3-day treatment with NCG (Carbaglu) can improve or restore urea genesis capacity in these patients. Participants must travel to a trial site (travel and lodging paid). For details click CARBAGLU.
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!
NUCDF Co-Hosts International Scientific Symposium 2013, Barcelona, Spain: The meeting will be patterned after NUCDF's 2009 International Scientific Symposium in La Jolla, CA, "Overcoming Barriers-New Directions and Future Developments for UCD." NUCDF and the Urea Cycle Disorders Consortium will co-host the 2013 international symposium for scientists and clinicians at the International Congress on Inborn Errors of Metabolism in Barcelona. The 2009 meeting served as a springboard for innovative research collaborations and stimulated focused research over the last three years. In 2009, over 250 clinicians and researchers from 23 countries attended a two-day meeting. 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.
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
On November 6, 2010 our Cure the Cycle Challenge participants raised awareness and over $67,000 to support NUCDF's research agenda. Our 12 Challenge Cyclists biked 100 miles from San Francisco to Marin County in California and back! Our "Virtual Riders" -- NUCDF families and friends -- helped drive online pledges through the roof! Hundreds of people who had never heard of urea cycle disorders are now helping to spread the word about our fight to conquer UCDs.
