In early April, the 2024 NUCDF Family Conference “Legacy of Hope” welcomed 54 families from the U.S., Brazil, Peru, El Salvador, and Canada, and nearly 40 medical professionals focused on improving the lives of people affected by urea cycle disorders. The conference theme, “Legacy of Hope,” guided the program as attendees honored the past and looked to the future.
Saturday’s events kicked off with a keynote presentation by Dr. Sandesh C.S. Nagamani, MBBS, M.D., of Baylor College of Medicine. He shared a historical perspective on research into urea cycle disorders, and prevalence data, and outlined challenges to advancing research and clinical care.
He highlighted NUCDF’s critical role in advancing clinical care and research in UCDs along with the work of its research partner, the Urea Cycle Disorders Consortium.
Dr. Nagamani compared outcomes for people with UCDs over time. Before nitrogen-scavenging therapies were widely available, the one-year survival rate for individuals with UCDs was 14%, and 75% of survivors had intellectual and developmental disabilities. A 2019 paper found significantly better neurological outcomes, with most UCD patients in the normal range of cognitive functioning. He outlined the ways that patients and NUCDF can contribute to ongoing research and introduced the day’s program by describing new research underway to further improve outcomes.
The busy weekend included two days of educational sessions, panel discussions, and breakouts targeted at patients and families; joint scientific meetings with the Urea Cycle Disorders Consortium, NUCDF’s research partner; an evening reception featuring an illuminated nighttime tribute; a very active kids’ camp; neuroimaging study sessions; and many fellowship opportunities.
Sessions for patients and families included:
My UCD Story: A glimpse into adult life of a UCD patient by Kristy McCracken, patient with OTC deficiency
UCD impact on family lives, learning processes and educational challenges by Marifi Escobar UCD parent, and educational advocate
Basics of UCDs by Lindsay C. Burrage, M.D., Ph.D., Baylor College of Medicine
Emerging knowledge from MRI imaging studies: Is ammonia control enough? by Andrea Gropman, M.D., Children’s National Hospital
New insights on liver disease in urea cycle disorders by Lindsay Burrage, M.D., Ph.D., Baylor College of Medicine
Improving diagnosis with the awesome power of yeast genetics by Aimee Dudley, Ph.D., Pacific Northwest Research Institute
Liver transplantation for urea cycle disorders: Lessons from the past 30 years by George Mazariegos, M.D., Children's Hospital of Pittsburgh
Making the choice between medical management and liver transplant: The family experience by Nicholas Ah Mew, M.D., Children’s National Hospital
Fork in the road: Improving your UCD diet by Erin MacLeod, R.D., Ph.D., Children’s National Hospital
Gene therapy: Is it the new frontier? by Shawn McCandless, M.D., Children’s Hospital of Colorado
Hope happens here: Understanding and participating in clinical trials for urea cycle disorders by Susan Berry, M.D., University of Minnesota Medical School
To find out more about the 2024 Family Conference, including video recordings of sessions, click here.
