Care Management Recommendations Published for WAGR Spectrum
The International WAGR Syndrome Association (IWSA) is pleased to announce the publication of "Results from the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management". Published in the journal Frontiers in Pediatrics, this important article highlights new, comprehensive information and presents first-ever care guidelines for individuals with this disorder.
Research for this project was conducted by the Kalish Laboratory at Children’s Hospital of Philadelphia Research Institute in collaboration with the IWSA Research and Medical Advocacy Team. Data for the project was provided by participants in the IWSA WAGR Syndrome Patient Registry.
“The significance of this research and resulting publication cannot be understated,” explains Kelly Trout, IWSA Director of Research and Medical Advocacy. “Patients, families, and physicians will now have evidence-based guidelines for medical care. These guidelines will dramatically improve diagnosis and treatment of the conditions associated with this rare disorder.”
The article describes many conditions not previously associated with the classic characteristics of W-A-G-R. Some of these conditions include behavior disorders, hearing loss, cardiometabolic abnormalities, and gastrointestinal issues. As a result of these findings, the authors propose “WAGR Spectrum” as an umbrella term to better describe the broad range of possible features.
According to Jenn Kalish MD, lead investigator for the study, the concept of WAGR spectrum will help physicians to recognize, diagnose, and treat the broad range of clinical issues involved in this disorder. Reconceptualizing WAGR syndrome as a “spectrum” disorder will also pave the way for future investigations, which will optimize patient care and health.
“This groundbreaking article would not have been possible without each parent who took the time to enroll and update their registries,” states Jenny Gunckle, IWSA board member and registry advocate. “With such a small patient population, every single entry makes a difference.”