ARDVARC- Advancing Rare Disorders: Vascular mAlformations Research Network of CaNVAS (Consortium of iNvestigators of Vascular AnomalieS)- Natural History/Biorepository

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Abstract

ARDVARC Project 1: Project Summary/Abstract The project addresses complex vascular malformations (cVMs), rare and incurable disorders that disrupt vascular development and result in significant health issues. The inherent variability in cVMs makes it difficult to understand their progression, complicating efforts in disease identification, risk evaluation, treatment planning, and the development of clinical trials. Additionally, the absence of centralized biospecimen repositories hampers the discovery of new molecular pathways and research methodologies. Current registries and biorepositories are too fragmented to support comprehensive studies. This initiative seeks to create the first U.S.-based natural history registry and centralized biorepository for cVMs, specifically targeting three complex and poorly served types: extracranial arteriovenous malformations, complicated lymphatic anomalies, and PIK3CA-related overgrowth spectrum disorders with VMs. The Advancing Rare Disorders - Vascular Malformations Research Network with CaNVAS (ARDVARC) will leverage the collaborative infrastructure of 23 CaNVAS institutions, the data management capabilities of the RDCRN DMCC, and the input of patient advocacy groups to establish a durable registry and biorepository. The project is structured around two primary objectives. The first aim is to create a cooperative natural history registry and centralized biorepository for complex VMs, which includes defining essential clinical outcome metrics via a Delphi process and setting up a centralized biorepository infrastructure at the Children’s Hospital of Philadelphia. The second aim focuses on the logistics of participant recruitment and enrollment for the registry and biorepository, developing standard operating procedures, and organizing an Advisory Board. The project intends to enroll at least 50 patients over three years, collecting approximately 100 samples for genomic analysis. By merging detailed natural history data with a centralized biorepository, this project intends to enhance the understanding and treatment of complex VMs, promoting progress in diagnosis, management, and personalized medicine for these difficult conditions. With broad collaboration, ARDVARC aspires to revolutionize the field and significantly improve patient outcomes.