Italian Registry and Biobank Study for Lymphatic Malformations Collecting Clinical and Genetic Data

What this Trial Is About

Lymphatic malformations ML are rare, benign conditions caused by abnormal development of the lymphatic system, often appearing at birth or early childhood mainly in the head and neck regions. These malformations can lead to serious complications such as airway blockage, eating difficulties, and bleeding. Due to their complexity and rarity, patients often require care from specialized centers. Recently, genetic discoveries have opened new possibilities for personalized treatments, highlighting the need for improved national protocols and research collaboration. This study aims to create a national computerized registry and biobank in Italy to collect both retrospective and prospective clinical and biological data from patients with ML. Genetic profiling using targeted next-generation sequencing NGS panels will be performed on tissue samples from affected patients. The study will gather extensive information on different ML types, their genetic profiles, treatment outcomes, and evolution over time. Participants will provide clinical data and biological samples for research purposes, with long-term follow-up planned over 20 years. Researchers will evaluate the incidence and prevalence of ML, genotype-phenotype relationships, treatment effects, quality of life, and natural disease progression. This comprehensive approach supports the development of national care standards and promotes scientific advances in ML management.

Institution of an Italian Registry and Biobank for Biological Sample Collection