Natural history, quality of life and patient-reported outcomes in vascular anomalies

The aim of NARRATIVE is to learn about the natural history and genetic etiology of vascular anomalies (VA). VA comprise a genetically defined, rare and heterogeneous group of disorders.

There is a need to understand their natural history, which is crucial to inform patients about future perspective and for treatment decisions on emerging therapies with repurposed targeted treatments.

In order to prepare the field for personalized medicine, we need to define, validate and testpatient reported outcome measures (PROMs).

Through this multidisciplinary collaboration of global experts, we aim to assemble a European patient cohort of well-characterized patients with rare VA to elucidate the natural history and quality of life and pave the way for targeted treatments.   1. Define genotype-phenotype correlations, to identify subgroups for risk stratification.  2.

Define natural history and risk of progression within defined genotypic/phenotypic patients within VA.  3.

Apply OVAMA scales and other patient-reported outcomes in a large cohort of patients with well-defined genotypes/phenotypes and in different age groups.  4.

Identify a set of quantitative, reliable outcome measures for each group of VA to be used to demonstrate clinically meaningful endpoints and prepare the field for personalized treatments.  5. Compile side effects and changes in quality of life following standard of care treatment. 6. Disseminate results and ensure open access to research results.