Newly Designated Rare Disease Clinical Research Center Aims to Advance Care and Research for Vascular Anomalies

Children’s Hospital of Philadelphia (CHOP) will serve as the headquarters of a new multi-institutional research network that will comprehensively study vascular anomalies, which are growths made up of blood vessels that have developed incorrectly that can present as malformations or tumors. The Advancing Rare Disorders – Vascular mAlformation Research network with CaNVAS (ARDVARC) network has been designated a Rare Disease Clinical Research Center by the National Institutes of Health, recently funded by a U54 Specialized Center Cooperative Agreement.

Vascular anomalies are caused by disorders in vascular development that lead to an increased number of abnormally twisted and enlarged blood vessels collecting in a single or multiple locations. The majority of vascular anomalies occur without any family history and are not inherited; they are instead caused by somatic mutations that occur during development. While some of these anomalies are benign, they can cause major problems with pain, bleeding, disfigurement and some forms can even be life-threatening.

One of the major challenges of studying vascular anomalies is that while patients might share somatic mutations, presentations could be different, making clinical trials difficult to design because each patient might have different benefits depending on their presentation.

ARDVARC will focus on three of the most complex forms of vascular anomalies: PIK3CA-related overgrowth spectrum with vascular malformations, extracranial arteriovenous malformations and complex lymphatic anomalies. 

The first major goal of ARDVARC is to establish a patient registry and biorepository so clinicians who focus on vascular anomalies can share critical information and compare genotypes and phenotypes to better characterize the similarities and differences between presentations. This will build upon the work done by the Consortium of iNvestigators of Vascular AnomalieS (CaNVAS), a multi-institutional research consortium founded by a group of pediatric hematologist/oncologists and patient advocacy groups to address the rare nature of vascular anomalies.

The second major goal is to establish a Patient-Reported Outcomes Measurement Information System (PROMIS) score for vascular anomalies so that experts in vascular anomalies can establish objective measures of patient health that can be used to measure the success of new therapies in clinical trials.

“This project is built upon years of advancements and learning more about the many children and adults who struggle with vascular anomalies and making sure that they can be properly diagnosed and find a treatment that works for them,” said Denise Adams, MD, a pediatric hematologist-oncologist and Director of the Comprehensive Vascular Anomalies Program (CVAP) at CHOP. “With a growing number of younger and mid-level investigators who are eager to tackle these issues, the timing of this project and its ability to bring a variety of expertise together is perfect.”

Dr. Adams will serve as the co-primary investigator of ARDVARC alongside Michael Jeng, PhD, of Standford University. They will be joined by two patient advocates from groups that work with CaNVAS: Mellenee Finger, Director of the Klippel-Trenaunay (K-T) Support Group and Elizabeth Bovee, a member of the Lymphangiomatosis and Gorham’s Disease Alliance (LGDA).