A Nationwide Italian Network to Improve Diagnosis and Care of Rare Cerebrovascular Diseases Including CADASIL, Fabry Disease, COL4A1, Sneddon Syndrome, and Moyamoya Arteriopathy

What this Trial Is About

Cerebrovascular diseases CVDs are a major cause of illness and death worldwide, with over 30% of strokes having unknown causes. Rare cerebrovascular diseases rCVDs, including inherited conditions like CADASIL, COL4A1 syndrome, and Fabry disease, as well as acquired ones like Sneddon syndrome and Moyamoya arteriopathy, contribute to some of these strokes. These rare diseases are often misdiagnosed due to difficulty in recognition, yet identifying them is crucial for proper management, genetic counseling, and potential therapy. Currently, diagnosis and care are limited to a few specialized centers, mainly in northern Italy, causing patients to travel long distances for care. This observational study aims to create a clinical and research network across Italy to improve diagnosis and understanding of rCVDs, especially in southern regions. The study will describe the clinical features and natural course of these diseases during the first 12 months. Later, between 12 and 30 months, it will explore molecular mechanisms, identify biomarkers, and work towards better clinical and therapeutic management. Participants diagnosed with rCVDs such as CADASIL, Fabry disease, COL4A1, Sneddon syndrome, or Moyamoya arteriopathy who have had at least one brain MRI will be included. Researchers will collect clinical, genetic, and neuroradiological data to characterize these patients and monitor their disease progression. The study does not involve treatments but focuses on gathering information to improve diagnosis and care. Participation may last up to 30 months with ongoing assessments and data analysis.

RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)