Sturge-Weber Syndrome

Researchers are evaluating the safety and effectiveness of RLY-2608, a mutant-selective oral PI3K inhibitor, in adults and children with PIK3CA Related Overgrowth Spectrum PROS and malformations driven by PIK3CA mutation. This Phase 2 study has three parts Part 1 focuses on dose selection, Part 2 includes exploratory single-arm cohorts for different participant groups, and Part 3 is a randomized, double-blinded study comparing RLY-2608 to a placebo. Participants receive RLY-2608 orally in various doses depending on their age group and study part. Children aged 2 to under 6 years and 6 to under 12 years undergo dose escalation to find the recommended dose, while older participants receive established doses. Part 3 involves randomization to either RLY-2608 or placebo for participants aged 6 years and older. Each part includes dosing cycles and treatment schedules designed to assess safety and efficacy. During the study, participants undergo assessments including lesion volume measurements, blood tests, ECGs, and biopsies to confirm PIK3CA mutation status. Researchers monitor adverse events and treatment effects through regular visits and imaging at baseline, Week 12, and Week 24. Patient-reported outcomes and quality of life measures are also collected monthly in Part 3. The study spans several years, with ongoing safety and efficacy evaluations throughout treatment and follow-up periods.

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 mgkg. 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 studys 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.

Researchers are conducting an observational study to create a comprehensive registry system that collects data on various rare diseases RD. The goal is to group different rare diseases together to better understand their clinical features, diagnosis, treatments, and patient outcomes. This registry aims to support research by improving knowledge about risk factors, disease progression, and resource use related to rare diseases. The study focuses on gathering data from patients with clinical or molecular diagnoses of specific rare diseases such as Amyloidosis, Sarcoidosis, Phacomatosis, and many others. Data is collected systematically from electronic medical records and patient reports to describe disease occurrence, diagnosis patterns, treatment modalities, and responses. The registry also plans to develop an alert system to identify possible rare disease cases from medical records. Participants are observed over time with data collected on survival rates, mortality, treatment timelines, clinical characteristics, and adverse events related to treatment. Researchers assess outcomes up to five years after enrollment, including time to first treatment and treatment responses. Patient-reported outcomes and demographic profiles are also recorded to understand the impact of rare diseases. The study spans multiple years, aiming to enhance disease knowledge and support future research and patient care improvements.

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 devices 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 devices 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.

Researchers are studying the natural history and progression of rare neurodegenerative diseases called glycosphingolipid storage disorders including GM1 and GM2 gangliosidosis and glycoprotein disorders such as sialidosis and galactosialidosis. These disorders primarily affect the brain and central nervous system and are often fatal or severely debilitating. Since effective treatments are not yet available, this study aims to gather detailed information on disease progression and identify markers that can help in future clinical trials. Participants with enzyme or DNA confirmation of these disorders will be evaluated using various medical technologies, including MRIMRS, hearing tests, EEG, sleep studies, nerve conduction studies, heart and abdominal ultrasounds, and evaluations from specialists in rehabilitation, ophthalmology, speech therapy, neurology, and psychology. Samples of blood, cerebrospinal fluid, and urine will be collected to explore biological markers related to disease severity. Additional laboratory work includes fibroblast cultures and the creation of stem cells to study neural tissues. Some participants or their families may complete questionnaires about medical history and disease presentation, with options for remote participation if travel is difficult. Participants may be seen every six months for infantile onset disease, yearly for juvenile onset, and approximately every two years for adult-onset disease, as long as they can travel safely. Data will be analyzed over time for each patient and across groups by age and genotype. The study measures natural disease progression and seeks to develop sensitive tools to monitor it. Participation involves clinical evaluations, imaging, laboratory tests, questionnaires, and sample collection, with no treatment administered as part of the study.

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 surgicalinterventional 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.

This research aims to evaluate oxygen levels in the colon of adults with acquired vascular abnormalities compared to healthy individuals. These vascular lesions, such as angiodysplasia, AVM, and hemangiomas, occur in the large bowel and may cause bleeding or iron deficiency anemia. The cause of these lesions is unknown, but they are more common in older adults and those with cardiac, pulmonary, or renal diseases, possibly linked to chronic low oxygen levels. Participants are divided into two groups those with vascular abnormalities in the proximal colon and those with a healthy colon. The study measures oxygen saturation at five locations in the proximal colon mucosa during a standard colonoscopy. This is a non-randomized, parallel-group study assessing oxygen levels over a 12-month period. During the study, participants undergo standard colonoscopy procedures where oxygen saturation measurements are taken. Researchers analyze quantitative oxygen levels in the colon mucosa as the primary outcome. The study includes adults aged 18 to 89 years and monitors participants up to 12 months to compare oxygenation between affected and healthy colons.

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.