Overview

“Results from the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management,” published in Frontiers in Pediatrics, is the result of a multi-year project conducted by the Kalish Laboratory at Children’s Hospital of Philadelphia Research Institute in collaboration with the IWSA Research and Medical Advocacy Team.

This research highlights new information, recommends changing the name of the disorder, and presents evidence-based, comprehensive guidelines for medical care. 

Care Management Guidelines

A wide variety of conditions are possible in this disorder, making comprehensive, individualized medical care very important. “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.”

Within this publication, “Care Management” refers to a team-based, patient-centered approach to managing medical care. This team includes patients and their families, primary physicians, specialists, and other healthcare providers. The Care Management approach focuses on individualized care to ensure early diagnosis, effective treatment, and integrated healthcare management throughout the patient’s lifespan.  

Newly created Care Management Guidelines for WAGR Spectrum specifically address:

• Surveillance for Wilms tumor
• Chronic kidney disease
• Metabolic disorders
• Behavior issues
• Neurological conditions

Numerous other conditions are also addressed in these new Guidelines, specifically detailed in sections 4.2 - 4.5 of the article.

The Care Management Model and Screening Program figures below will be helpful as a quick-reference guide. Parents and physicians should use these Guidelines as a checklist to ensure consideration of recommended screening, imaging studies, laboratory tests, and specialty referrals.

Abbreviations Referenced in Care Guidelines

Understanding the New Care Management Guidelines

Managing healthcare for individuals with WAGR spectrum can be confusing and complicated. Now for the first time ever, there are evidence-based guidelines that provide specific recommendations for screening and diagnosis. The IWSA has simplified the Kidney Health and Wilms tumor recommendations to help parents to better understand the guidelines.  When parents are well informed, they are better prepared to be full and confident partners in the medical team.  

Screening at Birth or Diagnosis of WAGR Spectrum

Screening Guidelines for Kidney Health

Screening Guidelines for Wilms Tumor

Renaming: WAGR Syndrome to WAGR Spectrum

The term “syndrome” no longer adequately describes the newly identified and broader variety of conditions associated with this disorder. “Spectrum” serves as an umbrella term which expands and emphasizes the wide range of possible conditions and their severity. 

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.

Specifically, renaming the disorder "WAGR Spectrum" will accomplish the following:

Results from the Patient Registry

The IWSA Patient Registry was the key to the new findings in this recent research. The research team analyzed this data and identified the frequency and severity of the conditions reported. 

The data validated some previous findings, such as the frequency of occurrence of Wilms tumor. In some cases, the data illustrated a higher risk for some conditions, such as metabolic disorders and chronic kidney disease. And in other cases, the data identified complications not previously associated with this disorder.

In all cases, the results of this research will lead to a better understanding of potential complications of WAGR Spectrum and will improve health care and quality of life for patients.

“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.”

Specific data on all of the conditions reported in the Registry is available in the published article.  A variety of examples are included below.

Psychosocial and Well-Being Characteristics

Frequency of Health Issue Categories Affected

Additional Health Care Considerations for Patients with WAGR Spectrum

Participate in the Registry

This research project was made possible by families who participated in the IWSA Patient Registry.

The Patient Registry is one of the most important and effective ways the IWSA facilitates research to improve the lives of people with WAGR Spectrum.

Meet the Team