Innovative Research Study to Focus on Wilms Tumor in Rare Genetic Syndrome

A new research study may lead to the prevention of Wilms tumor in children with a rare genetic disorder called WAGR syndrome. This first-of-its-kind study will focus on developing a chemoprevention strategy for a pediatric cancer predisposition syndrome.

Wilms tumor is the fifth most common cancer in children, and develops in approximately 50% of individuals born with WAGR syndrome. Current practice involves monitoring children with WAGR syndrome for the development of this cancer, however, the concept of prevention is novel and potentially life changing for patients with this disorder and other cancer predisposition syndromes.

The International WAGR Syndrome Association (IWSA) represents patients and their families and collaborates with researchers, clinicians, and other nonprofit organizations to bring attention to the diagnosis and management of Wilms tumor in this patient population.

In 2016, the first scientific symposium on Wilms tumor in WAGR syndrome was funded by the nonprofit WAGR Warriors, organized by Peter Ehrlrich, Professor of Pediatric Surgery, and held at the University of Michigan. This inaugural meeting brought together Wilms tumor researchers and clinicians from around the world to explore current knowledge and to identify potential research pathways.

The followup scientific meeting was held in 2018, and this time hosted by the IWSA and funded by the Patient Centered Outcomes Research Institute (PCORI). This second meeting was unique because it included parents of patients with WAGR syndrome. “Patient-centered” research involves placing patient questions and concerns at the forefront of the research process, enabling creation of patient-prioritized studies.

The new study is a result of these scientific meetings and years of effort and broad collaboration between the IWSA; Wilms tumor researchers and clinicians; parents, families, and friends of individuals with WAGR syndrome; WAGR Warriors; and other patient advocacy organizations and stakeholders.

Preclinical work for this study is being funded by WAGR Warriors and is underway at the University of Texas MD Anderson Cancer Center. This work involves the use of the Wt1-lgf2 Wilms tumor mouse model (that mimics the genetic alterations observed in Wilms tumors developing in the context of WAGR syndrome) to test the chemopreventive efficacy of the proposed drug in these mice. If this multi-year project proves successful in the laboratory, clinical trials could soon follow.

According to lead investigators Jeff Dome, MD, PhD and Vicki Huff, PhD, “This research has the potential to transform the management of a pediatric cancer predisposition syndrome from an approach that relies solely on cancer screening to one that includes cancer prevention.”

Vicki Huff, PhD is Professor, University of Texas MD Anderson Cancer Center’s Department of Genetics and Director, MD Anderson’s Advanced Technology Genomics Core Facility. She is also Chair of the Children’s Oncology Group (COG) Renal Tumor Biology Committee. Dr Huff developed the WT1-lgf2 Wilms tumor mouse model.

Jeffrey Dome, MD, PhD, is Vice President, Center for Cancer and Blood Disorders; Chief, Division of Oncology; and Associate Director, Center for Cancer and Immunology Research at Children’s National Hospital in Washington, DC. Dr. Dome served as Chair of the Children’s Oncology Group (COG) Renal Tumor Committee for more than a decade and has led many clinical and translational research studies that have shaped how Wilms tumor is currently treated. Dr Dome serves on the IWSA Medical and Scientific Advisory Board, and in collaboration with the IWSA is developing the first WAGR Syndrome Center of Excellence as part of the Rare Disease Institute at Children’s National Hospital in Washington, DC.

WAGR syndrome is a rare genetic disorder that occurs in approximately 1 in one million births. It is a complex medical syndrome caused by deletion of genetic material located on the short arm of the 11th chromosome. W-A-G-R stands for Wilms tumor, Aniridia, Genitourinary abnormalities, and Range of developmental delays.

The International WAGR Syndrome Association is a 501(c)(3) not for profit organization whose mission is to promote awareness, facilitate research, and support families affected by WAGR syndrome. The IWSA maintains a comprehensive patient registry, and represents families in 38 countries. https://www.wagr.org

WAGR Warriors is a 501(c)(3) non-profit organization dedicated to raising funds to be used to improve the lives of those affected by WAGR syndrome and other rare diseases by raising awareness, stimulating research, and providing aid to families and other organizations. http://wagrwarriors.org/

The Patient-Centered Outcomes Research Institute (PCORI) is an independent nonprofit, nongovernmental organization in Washington, DC, authorized by Congress in 2010. PCORI helps people make informed healthcare decisions, and improves healthcare delivery and outcomes, by producing and promoting high-integrity, evidence-based information that comes from research guided by patients, caregivers, and the broader healthcare community. https://www.pcori.org/