Monday, March 31, 2025—The National Urea Cycle Disorders Foundation (NUCDF) is pleased to announce the launch of a new free educational series for clinicians, “Urea Cycle Disorders ECHO: The Essentials,” in partnership with Project ECHO®.
The series offers continuing medical education credits for physicians. Four sessions will be offered in 2025 focusing on recognition, diagnosis, and treatment of urea cycle disorders (UCDs), a group of eight rare genetic metabolic disorders. UCDs impair the body’s ability to remove ammonia from the bloodstream, which can lead to coma, brain damage, and death. Rapid diagnosis and effective treatment are critical.
The goal of the series is to share essential information with frontline caregivers who may not encounter these disorders often, including emergency room physicians, nurse practitioners, pediatricians, and neurologists as well as medical students.
“These disorders are rare, symptoms can be confusing, and many clinicians are unfamiliar with them. Too often, patients die or suffer permanent injury because of a missed diagnosis or improper care,” says Tresa Warner, executive director of NUCDF. “Our goal is to ensure that every frontline healthcare provider understands the essentials of recognizing, diagnosing, and treating urea cycle disorders. We also want to help them access expert advice when needed.”
To foster a community of practice, session attendees will be invited to join a private discussion group for clinicians where they can share learnings and ask questions.
The series includes four sessions:
- Session 1: Recognition and Testing, Tuesday, April 29, 5-6:30 pm ET with Lindsay Burrage, MD, PhD, Baylor College of Medicine
- Session 2: Diagnosis and Treatment, Tuesday, July 1, 5-6:30 pm ET with Sandesh CS Nagamani, MD, Baylor College of Medicine and Andrea Gropman, MD, St. Jude Research Hospital
- Session 3: The Importance of Diet, Tuesday, September 16, 5-6:30 pm ET with Nicholas Ah Mew, MD and Erin MacLeod, PhD, RD, LD, Children’s National Hospital
- Session 4: Long-term Management, Tuesday, November 11, 5-6:30 pm ET with Laura Konczal, MD, University Hospitals Cleveland Medical Center.
Participants can register for the series here.
About the series The Urea Cycle Disorders ECHO program is offered by the National Urea Cycle Disorders Foundation (NUCDF), a nonprofit patient group that advocates for people affected by UCDs. Since 1988, we have been working to advance research, improve care, and raise awareness that saves lives. Our partners in this effort are the experts of the Urea Cycle Disorders Consortium (UCDC), an NIH-funded group of researchers and clinicians across 16 academic institutions in the U.S., Canada, and Europe. For more information, contact NUCDF at info@nucdf.org.
Project ECHO (Extension for Community Healthcare Outcomes) is an innovative tele-mentoring program designed to create virtual communities of learners by bringing together healthcare providers and subject matter experts using videoconference technology, brief lecture presentations, and case-based learning, fostering an “all learn, all teach” approach and democratization of knowledge. Learn more.
About the disorders UCDs are caused by genetic mutations that lead to deficiencies in enzymes or transporters crucial to removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream. The disorders can present shortly after birth or later in life. The specific mutation and degree of enzymatic function determine the onset and severity of UCDs. Less severe UCDs can be managed with a complex daily regimen of medication, low-protein diet, and nutritional supplementation, but cognitive impairment can still occur. Liver transplantation can be curative for some patients but brings new challenges and complications. New genetic therapies and mRNA treatments are being developed. Learn more.
In support of improving patient care, this activity has been planned and implemented by the National Urea Cycle Disorders Foundation and Project ECHO. Project ECHO® is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
AMA Designation Statement
Project ECHO® designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
