Moyamoya Disease

This research aims to gather initial feedback on the use of the STRATIF-AI platform and digital twin technology during the secondary prevention phase for adults with stroke, Moyamoya disease, and Cerebral Amyloid Angiopathy. It compares the experiences of patients using the STRATIF-AI app alongside standard care versus those receiving standard care alone. The goal is to understand how patients interact with the app and how usable they find it. Participants are randomly assigned to one of two groups. Arm 1 patients will use the STRATIF-AI app daily to help manage their health and understand their medical situation, in addition to following standard secondary prevention treatments. They may also choose to connect wearable devices to the app. Arm 2 patients will receive only the standard secondary prevention treatments and monitoring usual for these conditions. Both groups will complete cognitive and psychological assessments at the start and after six months. During the study, participants will undergo various assessments including cognitive tests like the Montreal Cognitive Assessment, health and disability surveys, and psychological evaluations. Clinical data and demographic information will also be collected. For Arm 1, interviews at six months will gather qualitative feedback on the app experience. The primary measurement focuses on user feedback after 12 months. The study is expected to end in April 2027 and is sponsored by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta.

Researchers are evaluating whether a personalized cardiac index-guided approach to managing blood flow during surgery can reduce postoperative transient ischemic episodes in children undergoing encephaloduroarteriosynangiosis (EDAS) surgery for Moyamoya disease. This prospective randomized controlled trial compares this approach to the standard method of managing blood pressure during surgery. The study focuses on pediatric patients under general anesthesia and aims to improve postoperative outcomes. Participants are randomly assigned to one of two groups: one group receives intraoperative hemodynamic management guided by their baseline cardiac index, which is continuously monitored and adjusted to stay within 20% of their baseline using the LiDCO system and echocardiography. The other group receives standard blood pressure-guided management where fluids and medications are adjusted based on mean arterial pressure. Both groups receive standard anesthesia monitoring during surgery. Throughout their hospital stay, participants will be closely monitored for transient ischemic episodes and other complications using MRI scans, fluid and medication tracking, and assessments of anesthesia and ventilation duration. Researchers will measure outcomes such as postoperative cerebral infarction, intracranial hemorrhage, length of hospital and ICU stay, intraoperative blood loss, and deviations from baseline cardiac index and blood pressure. The study follow-up includes the postoperative hospital stay and up to 14 days in the ICU, allowing comprehensive evaluation of recovery and safety.

Researchers are studying the impact of motor-cognitive incorporated training (MCIT) on individuals with post-stroke cognitive impairment (PSCI) or Moyamoya disease (MMD). The study explores the relationship between cognitive and motor impairments and brain activation patterns using functional near-infrared spectroscopy (fNIRS). It includes a cross-sectional comparison with healthy controls and randomized controlled trials to assess training effects. The study has three parts: Part I characterizes cognitive and motor performance and brain activation in PSCI, MMD, and healthy adults. Parts II and III are single-blinded randomized controlled trials testing the short- and long-term effects of MCIT versus motor training alone in people with PSCI or MMD. Training sessions last 30 minutes, three times per week, for four weeks. MCIT combines motor and cognitive tasks, while the control group receives motor training only. Participants undergo baseline assessments of cognition, motor function, and brain activity, followed by post-intervention and follow-up tests at 1, 3, and 12 months. Assessments include global cognition, executive function, sensorimotor tests, muscle strength, and ambulation. Brain activation is measured during tasks with fNIRS. Follow-up may include telephone interviews focusing on return-to-work status. The total participation spans from initial screening through one year post-intervention.

Researchers are investigating moyamoya disease (MMD), a progressive blood vessel disorder in the brain that has a genetic component but is not fully explained by genetics alone. This study aims to find early biological and imaging markers to detect high-risk individuals before symptoms appear. The research will compare patients with MMD, their first-degree relatives, and healthy controls to better understand susceptibility and improve early screening strategies. The study will enroll 700 participants in three groups: 400 with MMD, 200 first-degree relatives without clinical disease, and 100 healthy controls. At the start, all participants will provide clinical data and undergo 5T high-resolution MRI and biospecimen collection including blood, urine, stool, saliva, and nasal swabs. Patients undergoing surgery may also provide tissue samples. First-degree relatives and patients will be followed annually for 3 years, mainly by phone or online questionnaires, with optional repeat MRI. Participants will have neurological assessments, laboratory tests, and lifestyle data collected. Researchers will monitor for new MMD cases in relatives and disease progression in patients, including strokes and functional outcomes. The goal is to identify markers associated with disease onset and progression by analyzing clinical, imaging, and biospecimen data. This information will help develop an early warning system for those at risk. The total participation time is about 3 years per person.

Moyamoya disease is a condition where the blood vessels at the base of the brain narrow progressively, leading to poor blood flow and the formation of abnormal vascular networks. This study focuses on adult patients with moyamoya disease undergoing surgery and aims to observe how brain blood flow, oxygen use, and brain network connectivity change under anesthesia. The goal is to better understand anesthesia management to help protect brain function and improve cognitive abilities during the surgical period. Participants in this observational study are adults with moyamoya disease scheduled for specific brain revascularization surgeries. The study uses functional Magnetic Resonance Imaging (fMRI) to evaluate cerebrovascular reserve and brain network connectivity before sedation, after sedation, and while maintaining controlled blood pressure. No experimental treatments are given; instead, brain function changes are monitored during the perioperative period. During the study, participants undergo brain scans and electroencephalogram monitoring at multiple time points around the surgery. Researchers will measure changes in brain functional networks and track postoperative delirium up to five days after surgery. The study observes how anesthesia and blood pressure management affect brain oxygen metabolism and connectivity. Participation lasts through the surgical and immediate recovery period, providing insights into brain function under anesthesia in moyamoya disease.

This research aims to improve care for patients with Moyamoya Disease by advancing imaging techniques to better understand cerebral blood flow, disease activity, and progression. Moyamoya Disease is a rare condition characterized by narrowing or blockage of arteries in the brain, leading to risks of stroke. The study focuses on comparing CO2-triggered BOLD MRI with H2 15O PET/CT imaging, investigating vessel-wall changes, and correlating imaging findings with blood samples to uncover factors involved in disease progression. Participants will undergo special MRI scans including CO2-triggered BOLD MRI, vessel-wall imaging, and resting-state BOLD MRI to assess brain blood flow and disease activity. They will also have H2 15O PET/CT scans with an acetazolamide challenge for comparison. Blood samples will be collected to analyze circulating endothelial cells and viral markers. The study includes a two-year follow-up with standardized imaging, neuropsychological tests, and biosampling. Healthy volunteers and patients with intracerebral atherosclerotic disease will serve as comparison groups. Throughout the study, participants will have multiple imaging sessions and blood tests over up to 24 months. Researchers will measure how well CO2-triggered BOLD MRI matches PET/CT results, monitor vessel wall contrast changes, and track biological markers in blood. Neuropsychological assessments will evaluate brain function related to disease status. This study aims to develop imaging recommendations for pre- and postoperative evaluation of Moyamoya patients and provide insights into disease mechanisms and progression.

Researchers are investigating the long-term outcomes of conservative management in patients with moyamoya disease and their first-degree relatives. Moyamoya disease is a chronic condition involving narrowing of arteries in the brain, caused by genetic, inflammatory, immunological, and environmental factors. The exact cause is still unclear, and understanding long-term effects of non-surgical treatments could provide insights into the disease's development. Participants will receive conservative medical treatment tailored to their symptoms, including antiplatelets, antiepileptics, antihypertensives, and vasodilators. The study includes both patients diagnosed with moyamoya disease and their first-degree relatives who may carry genetic variants. The research team will observe these groups over several years without surgical intervention to evaluate treatment outcomes. During the study, participants will be monitored with regular assessments at baseline and multiple follow-up points up to five years. These include cerebrovascular event tracking, neurological outcome evaluations, brain imaging using methods like CTP, CTA, MRA, and HR-MRI, and blood tests for biomarkers. The study aims to better understand disease progression and treatment effects over time, with ongoing follow-up to ensure comprehensive data collection.

Researchers are studying the occurrence of post-operative Transient Neurologic Events (TNEs) within 30 days after surgery in people with Moyamoya Disease. The goal is to understand the causes of these events and find ways to reduce them during recovery after surgery. This observational study is sponsored by Stanford University and focuses on patients undergoing Moyamoya surgical treatment. Participants will receive the standard surgical care for Moyamoya Disease involving direct extracranial-intracranial bypass. After surgery, they will be monitored for 30 days to identify any transient neurological episodes. All interventions and assessments performed during this recovery period will be recorded to gather detailed information about factors that might contribute to TNEs. During the study, participants will undergo clinical neurological evaluations and other assessments as part of their routine care to track any TNEs. Researchers will collect data on neurological symptoms weekly during the 30 days post-surgery. The main outcome measured is the incidence of TNEs within this period. Participants will be followed closely to ensure accurate data collection and safety throughout the study duration.

Researchers are evaluating outcomes and their predictors in various neurosurgical conditions to improve the quality and consistency of research and clinical care. The study focuses on standardizing the assessment of clinical, cognitive, and psychological status before and after neurosurgical interventions across multiple centers. This effort aims to create a common language in routine practice and support better therapeutic decisions through shared data and identified predictive factors. The study collects detailed clinical and demographic information from patients undergoing neurosurgery for a wide range of conditions, including tumors, vascular diseases, trauma, spinal disorders, functional pathologies, peripheral nerve issues, and malformations. Data such as comorbidities, anesthesia details, complications, and psychological assessments are gathered before surgery and at follow-ups, with timing varying by condition. An artificial intelligence analysis will be used to identify important predictors and outcomes. Participants will provide data over a period of up to five years, including sociodemographic details, clinical status, cognitive and psychological assessments, and complication records. The study monitors these factors preoperatively and postoperatively to describe outcomes and explore associations with preoperative indicators. The long-term collection of data supports understanding neurosurgical results and guiding patient care more precisely.

Researchers are studying the causes and outcomes of ischemic stroke or transient ischemic attack (TIA) in young adults aged 18 to 50 years. This observational study aims to understand how blood clotting, inflammation, and damage to blood vessel linings contribute to stroke in this age group. The study also explores how these factors affect the risk of stroke recurrence and bleeding complications over time. The study includes two groups: patients aged 18 to 50 who have had a first-ever ischemic stroke or TIA, and healthy controls of the same age range without cardiovascular disease. Researchers will collect blood samples at the start and after three months to analyze clotting and inflammation markers. Participants will also undergo 3 Tesla MRI scans to assess blood vessel walls and complete questionnaires about possible stroke triggers. Participants will be involved in evaluations at baseline and three months, including blood tests for coagulation and inflammation, MRI scans, and questionnaires. Researchers will track participants for up to 10 years to monitor recurrent cardiovascular events, venous thrombosis, malignancy, bleeding complications, and overall survival. The study will compare findings between stroke patients and healthy controls to better understand stroke mechanisms in young adults.