Sturge-Weber Syndrome

This research aims to evaluate the safety and effectiveness of different light doses in treating adults aged 18 to 75 with Port-Wine Birthmarks (PWB). The study is a multi-center, randomized, double-blind, vehicle-controlled Phase 2 trial conducted in two sequential stages. It focuses on comparing Hemoporfin photodynamic therapy (PDT) with a vehicle (placebo) control using fixed drug dosing and varying light fluences. Participants will be randomly assigned to receive either Hemoporfin PDT or vehicle PDT via intravenous infusion at a fixed dose of 5 mg/kg. They will undergo fixed laser irradiation for a set time in cycles lasting 8 weeks. Each participant may receive up to three treatment cycles. The study consists of a Screening Period, Treatment Period, efficacy evaluation for subsequent treatment, and an End of Study phase, lasting up to approximately 44 weeks. Throughout the study, participants will be closely monitored for local and systemic adverse events. Researchers will assess changes in PWB severity using the Port Wine Birthmark-Investigator Global Assessment (PWB-IGA) scale and other measures from baseline until the study’s end. Regular evaluations include physical exams, safety assessments, and efficacy reviews, ensuring participant health and adherence over the entire study duration.

Researchers are investigating targeted drug therapies for patients with vascular malformations that are resistant to standard treatments or for whom standard treatments are unsuitable. These vascular malformations are classified as either slow-flow or fast-flow types, driven by genetic changes in two specific signalling pathways. This phase II open-label trial aims to evaluate the effects of 48 weeks of treatment using either alpelisib for slow-flow vascular malformations with PI3K pathway mutations or mirdametinib for fast-flow vascular malformations with MAPK pathway mutations. Participants are divided into two treatment groups based on their vascular malformation type and genetic mutation. Those with slow-flow malformations and PI3K pathway mutations will receive alpelisib, an oral PI3-kinase inhibitor, for 48 weeks followed by a 24-week follow-up. Those with fast-flow malformations and MAPK pathway mutations will receive mirdametinib, an investigational oral MEK inhibitor, also for 48 weeks followed by 24 weeks of follow-up. Both treatments are given as monotherapy and involve genetic testing before enrollment to confirm mutations. Throughout the study, participants will undergo various assessments including symptom evaluations using the Vascular Malformation Patient Specific Outcome Measure (VM-PSOM) and OVAMA questionnaires, MRI scans to measure lesion size, and monitoring for adverse events. The primary outcome is the improvement in the most significant symptom after 48 weeks of treatment. Follow-up visits continue for 24 weeks after treatment ends to monitor ongoing effects and safety. The total participation duration for each patient is approximately 72 weeks.

Rare Diseases (RD) pose a health challenge due to their complexity and low prevalence, generating a burden in terms of morbidity and mortality and costs. The fragmentation of data on these diseases makes it difficult to understand them comprehensively. Therefore, the creation of a macro institutional registry that brings together information on RD would facilitate research in this field. The registries are organized systems of systematic data collection of a large number of patients quickly and efficiently on a particular disease at a given time. The main difficulty of the registries is the guarantee of the quality of their data. The main objectives of the registry are: Understand risk factors and prognosis. Evaluate the diagnostic and therapeutic comparison with current standards. Advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients. Analyze the effectiveness of new therapies. Studying differences between populations. Quickly estimate the morbidity, mortality and resource utilization associated with a disease entity. Examine the course of a disease Formulate novel hypotheses for further prospective studies.

Researchers are evaluating the Anthelia Intense Pulsed Light (IPL) medical device for treating various skin conditions including excessive hairiness, vascular lesions, pigmented lesions, and acne vulgaris. The study is a post-market clinical trial conducted to assess the device's effectiveness and safety in these skin disorders. The IPL device has been FDA-cleared since 1995 and is noted for its cost-effectiveness and versatility compared to single-spectrum lasers. Participants will receive treatment with the Anthelia IPL device during multiple visits, following the device's instructions for use. The treatments target unwanted hair, varicosities, rosacea, solar lentigines, and facial acne, with specific inclusion criteria for skin types and condition characteristics. The study includes follow-up periods ranging up to 18 months to evaluate treatment effects. During the study, participants will undergo assessments to measure effectiveness using scores such as IRBMS, DLQI, and ECLA for acne patients. Safety and treatment response will be monitored over periods from 4 to 18 months depending on the condition treated. Participants will be evaluated regularly to track improvements in hairiness, vascular and pigmented lesions, and acne, ensuring comprehensive monitoring throughout the trial.

This research focuses on individuals with Sturge-Weber Syndrome (SWS), a condition that can affect the brain and cause seizures, stroke-like episodes, and neurological problems. The study aims to combine clinical data, brain imaging, and blood biomarkers over time to better understand SWS. Researchers want to identify biomarkers that signal worsening symptoms and explore inflammatory changes in patients with severe neurological signs. Participants will be involved in a longitudinal study collecting past and ongoing clinical information, imaging results, and blood samples. The study includes patients who have MRI-confirmed vascular brain abnormalities related to SWS. Blood samples will be taken initially and again during neurological symptom episodes, with follow-up samples six months later or beyond if symptoms persist. Imaging data will be gathered from all participating centers and analyzed alongside detailed treatment and symptom records. Those enrolled will provide consent for blood draws and be followed prospectively, with their clinical and imaging data collected over time. Researchers will monitor disease progression for up to four years, focusing on natural history and symptom changes. The study will store blood samples for detailed analysis of angioma and inflammatory markers. Participants may be asked to provide multiple blood samples if they experience severe neurological events during the study period.

Researchers are studying the natural history and progression of rare neurodegenerative disorders including GM1 and GM2 gangliosidosis, sialidosis, and galactosialidosis. These diseases primarily affect the brain and central nervous system and are often fatal or severely disabling. The goal is to understand disease progression, develop tools to monitor it, identify biological markers linked to severity, and learn more about the underlying mechanisms of neurodegeneration in these lysosomal storage and glycoprotein disorders. Participants with enzyme or DNA confirmed diagnoses may undergo evaluations every six months for infantile onset, yearly for juvenile onset, and about every two years for adult-onset disease if clinically stable for travel. Assessments include medical imaging such as MRI/MRS, hearing and neurological tests, sleep studies, cardiac and abdominal ultrasounds, and specialty evaluations in fields like rehabilitative medicine, ophthalmology, speech, neurology, and psychology. Biological samples including blood, cerebrospinal fluid, urine, and skin fibroblast cultures are collected to study biomarkers and test potential therapies. Participants may be asked to complete questionnaires about their medical and developmental history and provide head circumference measurements. Data are collected both cross-sectionally and over time, with the aim to correlate clinical findings and biomarkers with disease stages. This observational study monitors outcomes regularly to explore the natural history of these diseases, supporting future clinical trials. Participation can last many years with evaluations adapted to disease stability and onset age.

Researchers are evaluating the clinical outcomes of different treatment strategies for neuro-co-cardiological diseases and cerebrovascular diseases following cardiac surgery. This observational study also aims to identify factors that influence negative outcomes from these treatments. The trial is sponsored by Beijing Anzhen Hospital and focuses on patients aged 18 years and older with these specific conditions. Participants are grouped based on the treatment approach they receive, including simultaneous interventional, surgical, or hybrid surgical treatments; staged interventional, surgical, or hybrid treatments; conservative treatment alongside surgery or intervention; and treatments specifically for cerebrovascular disease following cardiac surgery, either surgical/interventional or conservative. These treatment strategies are observed without intervention from the study team. During the study, participants will be monitored using the Modified Rankin Scale Score at various time points including around 7 days, 90 days, and one year. The study also tracks perioperative complications and rates of cardiovascular and cerebrovascular events up to one year. Participants will undergo evaluations to assess both short-term and long-term complications related to their treatment. The total duration of involvement varies based on follow-up assessments up to 365 days.

Researchers are studying oxygen levels in the colon of people who have acquired vascular abnormalities in the proximal colon, such as angiodysplasia, arteriovenous malformations, and hemangiomas. These lesions are often found in older adults and those with heart, lung, or kidney conditions, and they may cause bleeding or iron deficiency anemia. The study aims to understand whether chronic low oxygen levels contribute to these vascular lesions by comparing affected individuals to healthy controls. Participants are divided into two groups: those with vascular abnormalities in the proximal colon and those with healthy colons. Researchers will measure oxygen saturation in five locations within the proximal colon mucosa during standard colonoscopy procedures. This study is non-randomized and does not involve blinding. The main evaluation will track colonic oxygen saturation levels from baseline up to 12 months. During the study, participants will undergo colonoscopies as part of their standard care, where oxygen levels in the colon will be quantitatively measured. The team will monitor oxygen saturation to understand the role of oxygenation in these lesions. Participants may be followed for up to one year to assess changes over time. The trial is open to adults aged 18 to 89 years, including both those with vascular lesions and healthy volunteers.

Researchers are evaluating the treatment of port wine birthmarks using an FDA-approved 532 nm laser, called the DermaV laser. The study aims to understand how well the treatments are tolerated and whether there are differences in tolerability and results between using a single high energy laser pulse versus multiple low energy pulses. Participants have non-facial port wine stains covering at least 30 cm2 on their body and are adults aged 18 to 75 years. Participants will receive three monthly laser treatments on their port wine birthmarks. Within each treated birthmark, one area will be treated with the standard single high fluence (high energy) pulse, while four other areas will receive multiple low fluence (lower energy) pulses. A sixth area of the birthmark will not be treated and will serve as a control for comparison. The study focuses on comparing these different laser pulse approaches during the treatment period. During the study, participants will be monitored for improvement in the treated areas at six months. Researchers will assess the degree of improvement, participant satisfaction, and any side effects. Participants are asked to follow post-treatment care, limit sun exposure by using sunscreen daily, and attend follow-up visits for evaluation. Digital photographs of the treatment areas will be taken to document results and support study analysis.