Clinical Research Directory

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

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.

Managing Transient Neurologic Episodes in Surgery for Moyamoya Disease

The goal of this study is to study the incidence of post-operative Transient Neurologic Events (TNEs) within 30 days postoperatively, as assessed by clinical neurological scales, binned by week. Collect data on all interventions and assessments performed during the recovery post surgery up to 30 days, to understand what factors might cause Transient Neurologic Events (TNEs) and determine how these can be reduced in Moyamoya subjects post surgery.

Super-resolution Clinical Brain Ultrasound

Transcranial Doppler ultrasonography with injection of contrast agent (intravenously to enhance the ultrasound signal) is a non-invasive technique that has been used for years to study intracranial vessels that constitute the polygon of Willis. However, this technique does not allow good visualization of small vessels, such as perforating arteries. Ultrasound localization microscopy (ULM) is based on the principle of localizing injected microbubbles in order to follow their movement to map the microvascular structure. The concentration of these microbubbles must remain low (in contrast to its classical use in Doppler ultrasound) in order to isolate and localize them. By using the same images as those performed in clinical routine by Doppler ultrasound and by processing the data offline, ULM would increase the resolution by a factor of 10 allowing potential observation of perforating arteries.