Moyamoya Syndrome

Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strokes. However, rCVDs are often misdiagnosed since clinicians are not able to recognize them. Although rare, the identification of these stroke causes is important to establish appropriate management measures, including genetic counselling, and, if available, therapy. The lack of data on phenotype and clinical course of rCVDs, given the paucity of published series, makes the diagnosis and the development of therapies challenging. Furthermore, the molecular characterization of rCVDs is still lacking, despite progresses achieved in common stroke by applying high throughput approaches as multi-omics. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, clinical and research activities are usually reserved to few specialized centers, mostly located in the North of Italy, leading patients to expensive trips for consultations. Therefore, the creation of a clinical and research network aimed at improving the diagnostic pathways of rCVDs is highly needed to improve the number of patients with rCVDs to better define the clinical phenotype and to transfer the knowledge on rCVDs in other centers overall Italy filling the geographical gap affecting Southern Italy.

Patients diagnosed with moyamoya vasculopathy by imaging and classified as having the Traditional Chinese Medicine (TCM) syndrome of liver-yang hyperactivity will be enrolled. On the basis of standardized Western medical management, participants will receive the standardized TCM herbal formula "Qiqi Shengmai Formula" (comprising Astragali Radix, Rehmanniae Radix Praeparata, Schisandrae Fructus, Bupleuri Radix, Paeoniae Radix Alba, and Notoginseng Radix). Structured follow-up will be conducted. By comparing endpoint indicators across different treatment regimens, the study aims to evaluate the efficacy of integrated TCM-Western medicine therapy for moyamoya vasculopathy and to generate evidence-based support for an integrated diagnostic and therapeutic model.