We know Urea Cycle Disorders. We live to conquer them.
GET HELP AND SUPPORT:Do you need support? Whether you have just received a diagnosis of urea cycle disorder, or you're a UCD veteran, we can help with information on diagnosis, learning how to manage a urea cycle disorder, living with UCD, and everything in between. Tell us your story. We're here to help with credible information and individual support.
STAY INFORMED: Keep up with the latest information on urea cycle disorder treatments, management and research.
News and Announcements
November 27, 2017 ZOEY'S STORY - RAISING AWARENESS ABOUT UREA CYCLE DISORDERS AND THE NEED FOR BLOOD AMMONIA TESTING IN THE EMERGENCY DEPARTMENT: Swift identification of elevated ammonia levels in the ER is needed to save lives. Zoey was a beautiful, spirited 19-year-old college student who lost her life to undiagnosed OTC deficiency. In Zoey's memory, her family has partnered with NUCDF to help raise awareness and educate medical professionals on the need to obtain blood ammonia levels. "...Every medical student Every intern Every physician Every physician assistant Every nurse Every healthcare provider Every resident assistant Every coach Every one should see this video," says Lorraine Potocki, MD, FACMG,
Professor, Department of Molecular and Human Genetics,
Baylor College of Medicine.
April 27, 2017 NEW YORK TIMES YOUNG COLLEGE STUDENT DIES FROM UNDIAGNOSED OTC DEFICIENCY: Despite reporting stomach pains and vomiting to emergency room personnel, a young woman dies from hyperammonemia due to undiagnosed OTC deficiency. A simple test in the ER - an ammonia level - could have saved her life.
July 25, 2017 CLINICAL TRIAL FOR ASA/ASL TREATMENT OPEN FOR ENROLLMENT: The long-awaited clinical trial "Effect of Nitric Oxide Supplementation on Neurocognitive Functions in Patients With Argininosuccinate Lyase Deficiency/Argininosuccinic Aciduria (ASLD/ASA)" is now open for enrollment at Baylor College of Medicine (one of the UCD Research Consortium clinical research sites) in Houston, Texas. A result of their pioneering discovery on the role of the urea cycle in regulating nitric oxide in the human body, the study is being conducted by Dr. Sandesh Nagamani and Dr. Brendan Lee to assess the effects of nitric oxide supplementation on general cognition, memory, executive functioning, and fine motor functioning in individuals with ASLD. DETAILS AND ELIGIBILITY
January 28, 2017 ARGINASE DEFICIENCY CLINICAL TRIAL: Pharmaceutical industry sponsored clinical trial recruiting participants to test safety and effectiveness of enzyme replacement therapy for Arginase Deficiency. Clinical trial and eligibility information here. What is a Phase I/II clinical trial here.
September 2016NUCDF FUNDS TWO NEW UCD CLINICAL RESEARCH SITES at Stanford/Lucile Packard Children's and University of California San Francisco. Both sites will be part of our National Institutes of Health (NIH) Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC). The UCDC is an international research network with 14 academic centers in the US, Canada and Europe providing state-of-the-art care and conducting cutting-edge UCD research. The UCDC is a collaborative partnership between the NIH, UCD clinicians, researchers and the National Urea Cycle Disorders Foundation to improve knowledge of UCDs, speed development of new treatments and clinical trials, and train the next generation of researchers.
August 2016 STUDY OPENS NEUROIMAGING AND NEUROPSYCHOLOGICAL OUTCOMES IN UREA CYCLE DISORDERS: This research conducted by Dr. Andrea Gropman will study the series of events that occur in the brain during acute hyperammonemia, as well as those that result from having a chronic UCD. The study will utilize different types of magnetic resonance imaging (MRI) to evaluate how UCD-related neurologic injuries affect brain metabolism, cognition, behavior, sensation, and movement in patients with UCDs. The research also seeks to determine whether the proximal and distal UCDs differ with regard to the mechanisms that cause neurological injury.
June 20, 2016 STUDY OPENS TO EVALUATE LIVER TRANSPLANT VERSUS STANDARD OF CARE FOR UCD. RECEIVES PRESTIGIOUS PCORI FUNDING AWARD: An increasing number of patients with UCD are undergoing liver transplant, but the decision about whether or not to transplant is often extremely difficult for families to make. Families want information about risks and long-term outcomes of transplant versus the risks associated with living with a urea cycle disorder. Is quality of life improved? To answer these questions, NUCDF has collaborated with clinical investigators to design a patient-centered research study to gather evidence-based information to help inform families and healthcare providers about outcomes of patients with UCD who underwent liver transplant compared to those who continued with standard medical and nutritional management. The study will receive funding from the Patient-Centered Outcomes Research Institute (PCORI). The research team will be lead by co-principal investigators, Mendel Tuchman, MD, Children's National Medical Center (CNMC), and Cynthia Le Mons from NUCDF. The research team includes investigators and healthcare professionals from George Washington University, SPLIT (Studies of Pediatric Liver Transplantation), and 11 clinical research sites of the Urea Cycle Disorders Consortium. The study will gather information from families who have undergone liver transplant, families who have chosen to continue standard of care, and families who are weighing their options. "This project was selected for PCORI funding not only for its scientific merit and commitment to engaging patients and other stakeholders, but also for its potential to fill in an important gap in our health knowledge and give people information to help them weigh the effectiveness of their care options," said PCORI Executive Director Joe Selby, MD, MPH. Learn more/Join the study.
July 8, 2015 NUCDF PARTNERS WITH BAYLOR GENETIC LAB TO FIND CURES: In a model partnership focused on accelerating discovery of a cure for urea cycle disorders, NUCDF will fund the CureUCD Center for Preclinical Therapeutic Discovery at the top genetics lab in the US at Baylor College of Medicine. Under the direction of Brendan Lee, MD, PhD, preeminent UCD scientist and clinician, the Center will focus on preclinical validation of compounds and technologies that hold promise for UCD. NUCDF will partner with biotechnology and pharmaceutical companies to accelerate the development timeline from preclinical validation through to clinical trial and FDA approval. PRESS RELEASE
Jan 27, 2015PHEBURANE RECEIVES APPROVAL FROM HEALTH CANADA AS TREATMENT FOR UCD:Pheburane is a new oral formulation of sodium phenylbutyrate. The granular form is meant to mask the unpleasant taste of the active substance (sodium phenylbutrate). Pheburane will provide Canadians living with urea cycle disorder access to a lower-cost alternative for the treatment of UCD. In July 2013, Lucane Pharma, developer of Pheburane, was granted a marketing authorization valid throughout the European Union, and plans to apply for FDA approval in the United States in 2015.
Jan 9, 2015 NUCDF FELLOWSHIP AWARDEE LINDSAY BURRAGE, MD, PhD DEVELOPING ENZYME REPLACEMENT THERAPY FOR ARGINASE DEFICIENCY: A Phase I/II proof of concept clinical trial is being designed with the partnership of our National Institutes of Health Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC). The UCDC will be assist in study design as well as protocol review. Pre-clinical research has been completed and an Investigational New Drug filing will be submitted to the FDA in mid 2015 to enable initiation of the clinical trial. We will post updates as they become available.(See background).
Oct 8, 2014 NIH ANNOUNCES 5-YEAR $6.25 MILLION AWARD TO UREA CYCLE DISORDERS RESEARCH CONSORTIUM (UCDC): The award marks the 3rd straight funding award for the UCDC from NIH's Rare Diseases Clinical Research Network. Since its creation in 2003, the UCD Consortium has flourished into an international research network with 14 academic centers in the US, Canada and Europe providing state-of-the-art care and conducting cutting-edge UCD research. The UCDC is a collaboration between NIH, UCD physician-scientists and the National Urea Cycle Disorders Foundation to improve knowledge of UCDs and speed development of new treatments. Dr. Mark Batshaw, Physician-in-Chief and Chief Academic Officer at Children's National Medical Center will continue in his role as Principal Investigator. Dr. Mendel Tuchman, Chief Research Officer and Scientific Director of the Children's Research Institute will serve as Co-Principal Investigator and administrative director. NUCDF Executive Director, Cynthia Le Mons, has been chosen as Co-Principal Investigator in recognition of her leadership in the UCDC since its inception, extensive knowledge of urea cycle disorders, and advocacy role in the UCD community. The UCDC first received funding in 2003, and became a model for NIH's vision for rare disease research collaborations. The 2014 UCDC grant application received a perfect score of 10, a rare and exemplary score. (UCDC has received the top score out of all grant applications for rare disorders in each of the 5-year funding rounds since 2003).(More about the UCDC's work)
CITRULLINE ALERT: In February 2014, FDA recalled L-citrulline manufactured by Medisca. Although reputable suppliers of pharmaceutical grade L-citrulline and L-arginine have quality control procedures to ensure quality, due to the Medisca L-citrulline recall (see Feb 14 recall), there are reasonable concerns about the potential for future issues with quality of supplements like L-citrulline that are not regulated by the FDA. Quality issues could result in side effects, including but not limited to metabolic instability, hyperammonemia or other symptoms. Please notify your metabolic physician and pharmacy if you suspect any issues. Adverse events should be reported to the FDA MedWatch HERE.
NUCDF 2014 FELLOWSHIP GRANT AWARDED TO LINDSAY BURRAGE, MD, PhD, Research leads to clinical trial for Arginase Deficiency
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.
In 2014, the NUCDF Fellowship was awarded to Dr. Lindsay Burrage of Baylor College of Medicine. Dr. Burrage worked under the direction of preeminent UCD scientist and clinician, Dr. Brendan Lee. As our NUCDF Fellow, Dr. Burrage conducted research studies to investigate whether a form of the arginase enzyme could be used to reduce blood arginine levels in an animal model of Arginemia. The success of her animal studies resulted in a clinical trial for the enzyme therapy being developed by Aeglea Biotherapeutics. (UPDATE 1/28/17 pharmaceutical industry clinical trial recruiting participants). Previous NUCDF Fellowship awardees include Oleg Shchelockov, MD (2009), Ayelet Arez, MD PhD (2008) and Sandesh Nagamani MD(2011), resulting in transformational research on the role of nitric oxide in ASA and an upcoming clinical trial for a new treatment for ASA. For more about the NUCDF Fellowship awaredees and their commitment to UCD research and our UCD community click NUCDF Fellowship
Do you need help or information on understanding or managing UCD?We're here to help you! Email us at
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 by signing up for the NUCDF E-newsletter.
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
"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.
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It's been a busy summer! Connecting families, educating providers and first responders, research meetings, new treatments in the pipeline, new studies, providing life-saving information and support to newly diagnosed families and adults, and to our UCD veterans.
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.
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.
You rocked the Challenge again this year! Thank you to our families, friends, and sponsors for supporting the 6th Annual Cure the Cycle Challenge, raising UCD awareness and more than $100,000 for research.
UCD International Patient-Reported Outcome Study:Report your own unique experiences as a parent or individual affected by UCD. Help increase the understanding of UCD, how many people have the disorder, and how diagnosis, treatment and outcomes can be improved. You can help identify under-recognized issues and areas that need more research. Details
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