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.
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News and Announcements
May 25, 2020 CLINICAL RESEARCH SURVEY, IMPACT OF COVID-19 ON RARE DISEASE PATIENTS AND CAREGIVERS: This study is being conducted by the National Institutes of Health (NIH) Rare Diseases Clinical Research Network to help researchers understand the impact of COVID-19 on the rare disease community. Is access to care changing? Can you get needed medical and nutritional supplies? Are stress and anxiety impacting you and your family? Complete the survey or learn more at https://RareDiseasesNetwork.org/COVIDsurvey.
May 20, 2020 COVID-19 UPDATE Multisystem Inflammatory Syndrome in Children (MIS-C) Info Sheet: MIS-C is a rare and potentially fatal inflammatory disease in children that is linked to COVID-19, even in those who have been asymptomatic for COVID-19. Treatment may include steroids, which should be used with extreme caution in UCD. Steroids cause excessive ammonia production that could lead to hyperammonemia. Learn about the signs and symptoms of MIS-C and, if your UCD child shows signs, alert medical personnel that steroids may be contraindicated.
April 14, 2020 COVID-19 (Coronavirus) RECORDED WEBCAST "LIVING WITH UCD IN A COVID-19 WORLD": Presented in partnership by NUCDF and the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC). UCD patients and families submitted questions for the expert panel with Andrea Gropman, MD, and Sandesh Nagamani, MD, Principal Investigators of the UCDC, an international network of 16 clinical "centers of excellence" for UCD treatment and research.
April 9, 2020 COVID-19 (Coronavirus) SUBMIT QUESTIONS FOR "LIVING WITH UCD IN A COVID-19 WORLD": Those of us dealing with UCD have lots questions about COVID-19 (coronavirus)! Let's ask them! As promised, NUCDF will be hosting a recorded webcast in partnership with the Urea Cycle Disorders Consortium, "Living with UCD in a COVID-19 World," to answer questions from UCD patients and families and provide some guidance during this challenging time. Question submission closed Monday, April 13. Be safe out there!
March 15, 2020 COVID-19 (Coronavirus) RESOURCES AND RECOMMENDATIONS FOR UCD PATIENTS AND FAMILIES: It is an especially stressful time for many patients and families affected by urea cycle disorders who already deal with medical issues in their daily lives. In collaboration with our UCD medical experts in the Urea Cycle Disorders Research Consortium, the National Urea Cycle Disorders Foundation has developed recommendations for UCD patients and families for taking precautions to protect their health during the evolving coronavirus pandemic.
January 31, 2020 UCD MOM PUBLISHES CHLDREN'S STORY: Based on her son's experiences with UCD, the illustrated book weaves a magical story of whimsical adventures in hopes of raising awareness of rare diseases and learning to live with a rare condition.
October 24, 2019 UREA CYCLE DISORDERS RESEARCH CONSORTIUM RECEIVES NEW 5-YEAR FUNDING:National Institutes of Health Rare Diseases Clinical Research Network has awarded the Urea Cycle Disorders Consortium (UCDC) $5 million funding to continue research for urea cycle disorders. Founded in 2003 by UCD clinical research experts and the National Urea Cycle Disorders Foundation (NUCDF), the UCDC was established and received its first 5-year funding as one of ten consortia to study rare diseases by the Office of Rare Disease Research.
Now co-led by principal investigators Dr. Andrea Gropman at Children's National Medical Center, Dr. Sandesh Nagamani at Baylor, and Cynthia Le Mons at NUCDF, the17-site international UCD Consortium of physicians, scientists, neuropsychologists, nurses, genetic counselors and researchers will continue to work in collaboration with UCD patients and families to conduct studies to improve the understanding of UCDs, long-term health outcomes, and accelerate the development of new treatments.
"It's gratifying that patients diagnosed with urea cycle disorder now are surviving, growing up, becoming young adults and starting families themselves. Twenty to 30 years ago, this never would have seemed conceivable," Dr. Gropman says. "We have collected many years of longitudinal clinical data, but with this new funding we can address critical questions about UCD that are meaningful on a day-to-day basis for UCD patients and families and improve long-term health and quality of life."
August 7, 2019 MOM ADVOCATES FOR UCD RESEARCH AND EDUCATION IN MEMORY OF HER SON: After being diagnosed with acute lymphoblastic leukemia, a deadly combination of chemotherapy and undiagnosed urea cycle disorder (OTC) took the life of 14-year old Samson Boylen. His mother is dedicated to raising awareness and educating healthcare professionals to improve symptom recognition and screening.
March 2, 2019 LINCOLN FIFTH-GRADER BATTLING RARE DISORDER:Mya shares her story to raise awareness about OTC deficiency. Thank you to the Blomenberg Family for all their support of NUCDF since Mya's diagnosis, and for participating in UCD research studies to move the ball forward!
February 28, 2019 NUCDF RARE DISEASE DAY VIDEO: Commemorating Rare Disease Day around the world, focusing on raising awareness of the challenges faced by UCD patients and families.
February 28, 2019 Meet Kristy:Affected by UCD, Kristy "shows her Rare," and shares her story for Rare Disease Day 2019. Thank you, Kristy!
March 4, 2019 UCD? MEET YOUR NEW BEST FRIEND - NUCDF ANNOUNCES MYUCD DIET®:Medical professionals stopping by our exhibit at the Society for Inborn Errors of Metabolism (SIMD) meeting got a sneak peak at our new UCD diet management mobile app debuting this summer, designed specifically for UCD patients and families. Three years in development with input from UCD experts, families and patients, the project also includes a portal for dietitians to help manage and monitor diet changes, and a research portal to facilitate new studies on nutritional issues in UCD. Meet MyUCD Diet® at the NUCDF Family Conference! Sign up for MyUCD Diet® alerts and launch date.
More News and Announcements Archive
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February 28, 2018 JACKSON FUKUDA WINS RARE ARTIST AWARD:Affected with the rare UCD, arginase deficiency, Jackson used his artistic talent to raise awareness of UCD. Jackson's artwork was displayed at the Rare Artist Reception in Washington DC as part of Rare Disease Day on Capitol Hill. We're so proud of you, Jackson!
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 2016 NUCDF 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.
Support the Fight to Conquer Urea Cycle Disorders
"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!
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.
UCD Patients and families submitted questions for experts Andrea Gropman, MD, and Sandesh Nagamani, MD, Principal Investigators of the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium
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