CHOP researchers publish most comprehensive c

Philadelphia, December 20, 2021 – Researchers at the Children’s Hospital of Philadelphia (CHOP) have published the most comprehensive description yet of the rare genetic condition known as WAGR syndrome. This new report identified several clinical problems not classically associated with the disease and provides guidelines for proper diagnosis, management and potential treatment options. The findings were recently published in the journal Frontiers in Pediatrics.

WAGR syndrome is typically characterized by four clinical problems: Wilms tumor, aniridia (complete or partial absence of the iris), genitourinary abnormalities, and various developmental delays. About half of all patients with WAGR syndrome develop a Wilms tumor. Behavioral problems associated with this condition include ADHD, autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder (OCD), although some may have normal intellectual function and not behavioral problems.

However, WAGR syndrome is a very rare disease, with cases occurring in approximately one in every 500,000 to 1 million births. With such a rare disease, developing a comprehensive clinical description of the condition has been particularly challenging.

The International WAGR Syndrome Association (IWSA) established the WAGR Syndrome Patient Registry to collect clinical data from as many patients as possible. CHOP researchers analyzed this data to learn more about the rare condition.

“We had previously developed models for analyzing sets of clinical data for other diseases, so we had the resources to apply those same methods to the WAGR syndrome data,” said Jennifer M. Kalish, MD, PhD, a pediatric geneticist at CHOP with a special interest in rare diseases and predisposition to cancer.

The current study is the first comprehensive look at WAGR syndrome since 2005. The study used clinical data from 91 patients enrolled in the registry.

While the study confirmed many of the symptoms typically associated with WAGR syndrome, the researchers identified additional clinical problems beyond the classic description of the disease. For example, more than 50% of patients in the study reported kidney problems ranging from recurrent urinary tract infections to chronic kidney disease. Patients also experienced a variety of cardiometabolic health problems, including congenital heart defects, obesity, short stature, hypertension and heart murmurs.

However, these new data also revealed just how much of a spectrum disorder WAGR syndrome is. For example, while eye problems affected every patient studied, the types of eye problems varied wildly between patients. These variations in such a rare disease mean that each patient must receive individualized care. In addition, many patients may require long-term screening into adolescence and adulthood, as certain tumors can appear later in life than in other similar conditions such as Beckwith-Wiedemann syndrome.

“By providing this more comprehensive picture of WAGR syndrome, we are hopeful that these patients can receive the correct diagnosis as early as possible and establish a medical home so that parents and doctors can advocate for them,” Kalish said. “Each child should have their own individualized care plan, and we hope these recent findings help doctors develop those plans.”

This research was supported by the Alex’s Lemonade Stand Foundation and Miranda’s Mission. The Sanford Coordination of Rare Diseases (CoRDS) is a rare disease registry funded entirely by Sanford Health, a hospital system headquartered in South Dakota.

Duffy et al, “Results from the WAGR Syndrome Patient Registry: WAGR Spectrum Characterization and Care Management Recommendations.” front pediatrician Online Dec 14, 2021. DOI: 10.3389/fped.2021.733018.

About the Children’s Hospital of Philadelphia: Children’s Hospital of Philadelphia was founded in 1855 as the country’s first children’s hospital. Through its longstanding commitment to providing exceptional patient care, educating new generations of pediatric healthcare professionals, and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. The pediatric research program is one of the largest in the country. In addition, its unique family-centered care and public service programs have recognized the 595-bed hospital as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

log

Frontiers in Pediatrics

Research method

Data/Statistical Analysis

Subject of research

People

Article title

WAGR Syndrome Patient Registry Results: WAGR Spectrum Characterization and Care Management Recommendations

Article publication date

Dec 14, 2021

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