NARRATIVE

Vascular anomalies (VAs) are genetically defined, rare and highly heterogeneous group of malformations characterized by the presence of abnormal vascular structures. The identification of a common molecular basis of VAs has allowed the development of personalized and targeted pharmacological interventions. However, the lack of observational natural history studies and the application of clinically meaningful outcome measures in VAs are one of the main problems in guiding treatment decisions. Quantitative outcome measures have been recently developed and validated by the OVAMA project, but they have not been used in a large cohort of patients. The present study brings up the opportunity to use them for the first time on a large scale, in patients with all types of VAs. The aim of NARRATIVE is therefore to set up a natural history registry that collects clinical, genotype, imaging features, laboratory parameters, and patient-reported data in a cross-sectional study over time. Analysis of the data will allow the identification of factors associated with a greater impact on health-related quality of life, risk factors for disease progression and expected outcomes after treatment. We aim to enroll at least 1200 patients over three years and collect data from at least three different time points. This will be possible through the collaboration of multidisciplinary clinics and patient organizations in different countries within the VASCA group of the European Reference Network for Rare Multisystemic Vascular Diseases, VASCERN. NARRATIVE will allow us to analyze and conceptualize crucial needs for VAs studies and treatments, contributing to its understanding and creating a multidisciplinary library for VAs and their impacts on society. As a result of this collaborative international effort, we aim to better inform patients on shared treatment decisions and prepare the field for clinical trials with emerging treatments, as we will have defined the core outcome measure for each subgroup of VAs. NARRATIVE will provide an important set of data that will impact not only VA patients, families, and carers, but also clinicians and the European, and potentially global, healthcare system.