NUCDF launches national project to advance urea cycle disorder research

The National Urea Cycle Disorders Foundation (NUCDF), the leading patient advocacy group for people affected by urea cycle disorders (UCDs), today announced the launch of a two-year national project to establish the multistakeholder NUCDF Partner Network and develop a roadmap for future research in these rare disorders. The project is funded through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI).

Urea cycle disorders (UCDs) are eight related genetic disorders of protein metabolism that can lead to high ammonia resulting in coma, brain damage, and death.

Decades ago, a UCD diagnosis often meant fatal outcomes in infancy. If patients survived, they likely faced damage and high levels of illness. Today, thanks to years of research advances, UCDs have been transformed into complex but chronic illnesses for many patients, allowing them to achieve improved health outcomes and survive into adulthood.

Emerging gene therapies-such as the recent, promising individualized CRISPR gene editing treatment of a baby with a severe UCD called CPS1 deficiency-are both raising hope among UCD patients and complicating the UCD treatment landscape. Patients must choose between medical management, liver transplant, joining trials, or waiting for these potential new therapies to become broadly available.

The UCD community now finds itself at a critical research juncture. While medical advances have led to multiple treatments, patients and clinicians have insufficient data to guide health care decisions. Patients are living longer than ever before and facing new challenges. We want to empower the broad UCD community to work together effectively to identify and prioritize patient needs in UCD research, consider emerging treatments, and build a sustainable infrastructure for multi-stakeholder engagement that continues beyond this project."

Tresa Warner, NUCDF's executive director

Representatives of the UCD community will be invited to join the NUCDF Partner Network, which will include patients and caregivers, clinician-researchers, front-line providers, metabolic dietitians, and industry representatives. Network members will be trained in patient-centered research, help identify research needs, and work together to create a research roadmap.

NUCDF's Warner, a UCD parent who has been a patient advocate for more than 25 years, will lead the project along with NUCDF deputy director Jill Willliams, a science writer, project manager and UCD family member. Anna Wexler, PhD, a UCD parent and bioethics researcher at the University of Pennsylvania, will guide the project's qualitative research components.

Researchers with the Urea Cycle Disorders Consortium (UCDC) are among those who will join the project. NUCDF is the sole patient advocacy partner for this expert research network, which was funded since 2003 under the National Institutes of Health's Rare Diseases Clinical Research Network.

This project, Building Capacity for Patient-Centered Comparative Effectiveness Research on Urea Cycle Disorders, is part of a portfolio of projects funded by PCORI to help develop a community of patients, caregivers, clinicians and other stakeholders who are better equipped to engage as partners in all phases of patient-centered comparative clinical effectiveness research (CER) and to disseminate results of PCORI-funded studies. Through its Engagement Award Program, PCORI is creating an expansive network of individuals, communities and organizations who can leverage their lived experience and expertise to influence research to be more patient-centered, relevant and useful.

PCORI is a nonprofit organization with a mission to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information that is needed to make better-informed health care decisions.