NEWS ARCHIVE

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News and Announcement Archive

 

February 28, 2018 NUCDF RARE DISEASE DAY VIDEO: Honoring UCD families and their contributions to research, and raising awareness to over 4,900 on our NUCDF Facebook Page.

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.

August 18, 2017 CNN.com WOMAN SUFFERS FATAL HYPERAMMONEMIA FROM UNDIAGNOSED OTC DEFICIENCY AFTER INGESTING HIGH-PROTEIN FOODS AND PROTEIN SUPPLEMENTS FOR BODYBUILDING: Symptoms of urea cycle disorder went unrecognized as young mother, Meegan Hefford, prepared for a bodybuilding competition. Undiagnosed urea cycle disorders can be triggered by high-protein diets, resulting in excessive ammonia levels in the bloodstream. Her death triggers a world-wide controversy over the risks of high-protein supplements.

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.

 

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