Ardvarc-advancing rare disorders: vascular malformation research network with canvas - vascular malformations (VMS) result from abnormal overgrowth of blood and lymphatic vessels that are commonly…

Ardvarc-advancing rare disorders: vascular malformation research network with canvas - vascular malformations (VMS) result from abnormal overgrowth of blood and lymphatic vessels that are commonly driven by somatic variants in growth and proliferation pathways. Complex VMS are destructive, proliferative disorders with high morbidity and mortality. VMS are incurable and limited treatments exist. Advancing rare disorders-vascular malformation research network with canvas (ardvarc) is our proposal for a distinct program that builds upon an established clinical trial consortium (canvas) that focuses on VMS. Ardvarc has the overarching goal of supporting clinical trial readiness by developing a strong infrastructure for clinical trials, strengthening existing academic and commercial partnerships, fostering new collaborations, and promoting expertise across the workforce. The canvas consortium was created by pediatric hematologists and oncologists to address the paucity of prospective muti-centered trials for VMS. Canvas consists of 23 academic medical centers with expertise in VMS and clinical research. These canvas sites will serve as the infrastructure for ardvarc. Ardvarc will focus on 3 categories of rare, complex VMS: PIK3CA overgrowth spectrum disorders with VMS, complex lymphatic anomalies, and extra-cranial arteriovenous malformations. Each of these diseases meets the criteria for rare diseases and has high morbidity and mortality, limited information on natural history, lack of effective treatments, and limited numbers of disease experts. Ardvarc will work as an interdisciplinary research team (patient advocacy groups, clinical, translational, basic, and health services scientists) with the rdcrn to enhance clinical trial readiness through the clinical projects and cores described here. Our specific research aims include two clinical projects that aim to address two major deficiencies in this field that impeded clinical trial readiness. Project 1 will establish the first U.S.-based centralized and accessible natural history registry and biorepository resource for the study of complex VMS. Project 2 will develop and validate VM-specific health-related quality of life patient-reported outcome measures for children to be used in future trials as key clinical endpoints. The pilot project core will develop a formal process for evaluating and prioritizing study proposals related to innovative interventions and endpoint assessments. The career enhancement core will support the development of a sustainable workforce with expertise in research and clinical care of complex VMS. The administrative core is responsible for the overall administration and operation of this rdcrc. Adrvarc will be led by a group of expert researchers and patient advocacy group representatives to improve clinical trial readiness for complex VMS, with the long-term goals of improving clinical outcomes and identifying cures.