Klippel-Trenaunay Syndrome

Researchers are evaluating a new 10-minute cardiovascular magnetic resonance (CMR) imaging protocol designed to improve current CMR procedures for patients with various heart conditions, including coronary artery disease, cardiomyopathies, and other cardiac diseases. The study aims to develop a standardized, contrast-free imaging method that can be applied to about 70% of cardiac patients. The goal is to assess whether this shorter protocol enhances diagnostic decision-making and reduces healthcare costs. The study involves two groups: healthy volunteers over 18 years old without significant cardiovascular or respiratory conditions, and patients over 18 years who require a clinically indicated CMR exam. The new protocol focuses on heart function and tissue characterization without using contrast agents. Researchers will compare the new 10-minute protocol to standard CMR imaging, evaluating its clinical feasibility, performance, and cost-effectiveness in different patient populations. Participants will undergo CMR scans using both the new and standard protocols. Researchers will monitor diagnostic results, scan completion rates, scan sequence times, adverse events, and cost differences between methods. Various heart tissue measurements and reproducibility between different readers and scanners will also be assessed. The study spans from 2019 to 2025, with ongoing safety monitoring during imaging sequences and a focus on improving the efficiency and quality of cardiac imaging.

Researchers are evaluating the safety and effectiveness of RLY-2608, a mutant-selective PI3Kα inhibitor, in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations caused by PIK3CA mutations. This Phase 2 study has three parts: a dose selection phase, an exploratory phase with various participant groups, and a randomized, double-blind study comparing RLY-2608 to placebo. The study includes multiple subpopulations to understand how the drug works across ages and conditions related to PIK3CA mutations. Participants receive oral doses of RLY-2608 tailored for their age group. Children aged 2 to under 12 undergo dose escalation to find the appropriate dose, while those 12 years and older receive fixed doses. The study has single-arm dose expansion cohorts for different age groups, followed by a randomized phase where participants aged 6 and older receive either RLY-2608 or placebo. Dosing schedules and group assignments are carefully designed to assess safety and response in various participant groups. Throughout the study, participants undergo regular assessments including lesion volume measurements, safety labs, ECGs, and evaluations of side effects. Researchers collect samples to confirm PIK3CA mutation status and monitor plasma drug levels. Patient-reported outcomes and quality of life questionnaires are also used. The main outcomes include identifying the recommended dose, tracking adverse events, and measuring changes in lesion size and symptoms over time. Participation continues with regular monitoring until study completion or discontinuation, which may last several months or longer.

This research aims to explore the potential use of enalapril to treat painful venous malformations, which are congenital vascular defects that can cause disfigurement and pain, affecting patients' quality of life. The study investigates whether enalapril can reduce the pain and volume of these malformations and improve quality of life in affected patients aged 18 to 70. The trial is a phase 2, single-center, single-arm pilot study led by Oslo University Hospital.

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.

Researchers are evaluating alpelisib film-coated tablets (FCT) in participants with lymphatic malformations (LyM) associated with a PIK3CA mutation. The study aims to assess how alpelisib affects radiological response and symptom severity compared to placebo. This phase II/III, multi-center trial includes both pediatric and adult participants with this genetic mutation. The study has two stages. Stage 1 is a 24-week open-label phase to select doses of alpelisib for adults (18 years and older) and children aged 6 to 17 years, followed by an extension. Participants are randomized to different doses based on age. Stage 2 is a 24-week randomized, double-blind, placebo-controlled phase to confirm efficacy and safety of the selected dose in adults and children 6 to 17 years old, followed by an open-label extension. Additionally, children aged 0 to 5 years participate in a 24-week open-label phase with dose 3 of alpelisib, with an extension if they enroll. Participants will undergo regular assessments including radiological evaluations, symptom severity scales, and quality of life questionnaires up to approximately 8 years. Safety and response are monitored throughout both stages. The primary outcome is the radiological response rate at Week 24 of Stage 2. Other measures include patient and investigator impressions of change, symptom and lesion assessments, and alpelisib blood levels. Participants are expected to take study medication orally and attend scheduled visits during the study period.

Researchers are evaluating the safety and effectiveness of everolimus monotherapy in adults with vascular malformations. This single-arm exploratory trial is conducted by Xuanwu Hospital, Capital Medical University, and includes adult patients aged 18 to 65 who have vascular malformations confirmed by MRI and are unsuitable for effective surgical treatment. Participants will take oral everolimus 10 mg daily in continuous 28-day treatment cycles. Treatment will continue until disease progression, intolerable side effects, lack of benefit as judged by the investigator, study end, or other criteria for stopping treatment. The study includes assessments at multiple points, including after 3, 6, and 12 treatment cycles, and every 6 cycles thereafter. During the study, participants will undergo MRI scans to measure lesion volume and assess microbleeding, iron deposits, and hemorrhage risk. Clinical signs, symptom scores, and quality of life will also be evaluated. These evaluations are scheduled during screening, after certain treatment cycles, and at the end of treatment. The main outcome measured is the response rate based on MRI after one year of treatment.

This observational clinical study is designed to collect data in the United States to support the re-launch and regulatory approval of the redesigned Beacon Tip Sizing Catheter and Slip-Catheter Beacon Tip Catheter & Shuttle Select Slip-Catheter. The study focuses on evaluating these devices used in angiographic procedures for conditions such as stenosis, intracranial bleeding, stroke, TIA, vascular malformation, and pseudoaneurysm. The purpose is to assess safety and performance according to their intended use. Participants will undergo procedures using the Beacon Tip Catheters, which are designed for use by physicians trained in angiographic techniques. These catheters include marker bands for anatomical measurements and are used with standard vascular access methods. The study monitors use through the end of the index procedure and up to 30 days post-procedure to collect relevant safety and performance data. During the study, researchers will track successful navigation of the catheter to the intended location and whether the catheter performs as intended during the approximately one-hour procedure. They will also monitor for any major catheter-related complications up to 30 days after the procedure. Participant involvement primarily includes the procedure itself and follow-up monitoring to assess outcomes and safety over this time frame.

Researchers are conducting the Comprehensive HHT Outcomes Registry of the United States (CHORUS) to better understand Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic disorder causing abnormal blood vessels and related complications like bleeding, stroke, and heart failure. This observational study aims to collect long-term data on symptoms, complications, and the impact of HHT on patients' lives, helping improve knowledge and treatment options for the disease. Participants diagnosed with HHT through Curacao diagnostic criteria or genetic testing will be enrolled in this registry. The study will gather information retrospectively and prospectively over a 10-year period, collaborating with multiple HHT Centers of Excellence across the U.S. The registry will also serve as a centralized resource to help recruit participants for future clinical trials and research studies related to HHT. During the study, participants will provide permission to access their medical records and answer study-related questions by phone or clinic visits annually for up to 10 years. Researchers will collect data on demographics, diagnosis, family history, test results, treatments, symptoms, and complications. The main outcomes measured include baseline data and longitudinal clinical outcomes related to HHT, with additional assessments of severe morbidity, bleeding severity, vascular malformation growth, and treatment outcomes. Participants can withdraw at any time, and data confidentiality is prioritized.

This research aims to evaluate the effectiveness and safety of a more stable poly(cinnamyl alcohol) foam compared to ordinary foam in treating venous malformations of the head and neck. Venous malformations are abnormal blood vessel formations, and foam sclerotherapy has become a widely used method for treatment. This trial is designed as a prospective, randomized clinical study to provide clearer evidence and better treatment options for these malformations. The study compares two types of foam treatments produced by mixing a 1% poly(cinnamyl alcohol) solution with air using Tessari's method. One foam type includes 0.05% hyaluronic acid, making it more stable with a longer half-life than the ordinary foam. Treatments are injected into the venous malformations to displace blood and maintain contact with vessel walls, potentially enhancing therapeutic effects. The trial assesses whether this increased stability improves treatment outcomes and safety. Participants aged 14 to 60 years with diagnosed head and neck venous malformations will receive foam injections and be monitored over 3 to 4 weeks after treatment. Researchers will measure the remission rate, lesion volume, and number of injections needed. Safety and efficacy evaluations will be conducted during follow-up visits, with treatment repeated as necessary based on condition. The study's total duration extends until June 2026, ensuring thorough assessment of treatment results and participant well-being.