Telangiectasia

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.

This research aims to understand how menopause affects the risk of cardiovascular diseases such as atherosclerosis, heart attacks, and strokes in women. It focuses on the time around menopause when estrogen production stops, which is linked to a higher risk of these conditions. The study will follow 200 women from before menopause to at least 10 years after, using advanced methods to observe changes in blood vessels, the heart, and the brain, along with microRNA analysis of blood and tissue samples. Participants will be observed over a long period with repeated assessments before menopause and at 1, 3, 5, 10, and 20 years after menopause. These assessments include invasive and non-invasive measures of vascular function, as well as monitoring changes in skeletal muscle proteins and RNA expression from muscle and blood samples. Blood pressure will also be tracked regularly during this time. Women involved in the study will undergo detailed cardiovascular and biological evaluations at various time points throughout the study. This includes tests of blood vessel function, muscle tissue analysis, and blood sample collections. The researchers will also monitor blood pressure and other health indicators to understand the long-term impact of menopause on cardiovascular health. The total participation may last over 20 years, providing extensive data on how menopause influences disease risk over time.

Researchers are evaluating ALN-6400 in a combined Phase 1/2 clinical trial involving healthy adult volunteers and adult patients with Hereditary Hemorrhagic Telangiectasia (HHT). The study aims to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of single ascending doses of ALN-6400 in healthy volunteers and multiple doses in patients with HHT. This investigation also explores the efficacy of ALN-6400 in managing symptoms related to HHT. The study is divided into two parts: Part A includes healthy volunteers receiving a single dose of ALN-6400 or a placebo, and Part B involves patients with HHT receiving multiple doses of ALN-6400 or placebo. Both treatments are administered subcutaneously. Participants are randomly assigned to either the experimental or placebo groups, and the study is triple-blinded to ensure unbiased results. Participants will be monitored for safety through the frequency of adverse events up to 36 weeks in healthy volunteers and up to 96 weeks in patients with HHT. Researchers will measure drug concentrations in plasma, changes in plasminogen protein and activity levels, and various clinical outcomes related to epistaxis severity and frequency, hematologic support, and quality of life using patient-reported outcomes. The study includes long-term follow-up assessments to track these parameters throughout the study period.

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 evaluating the potential of a new technique called Brillouin microscopy to diagnose corneal conditions such as keratoconus and ectasia. The study compares the biomechanical properties of corneas in people with keratoconus, those with post-LASIK ectasia, and individuals with normal corneas. This observational study aims to better understand differences in corneal tissue using this advanced imaging method. Participants include volunteers with normal corneas, patients diagnosed with various stages of keratoconus, individuals who had LASIK surgery with or without complications, people scheduled for PRK or LASIK surgery, and patients with Fuch's endothelial corneal dystrophy. The study involves axial scans of the cornea using Brillouin imaging to assess and compare corneal biomechanics across these groups. Specific inclusion and exclusion criteria apply to each group based on diagnosis, prior surgeries, and other eye health factors. During the study, participants undergo corneal imaging to measure the cornea's elastic modulus, reflecting its biomechanical properties. Researchers monitor these properties over time to evaluate the diagnostic capabilities of Brillouin microscopy. Participants will be assessed for corneal health through topography, pachymetry, and clinical evaluations, with the study lasting several years to gather comprehensive data. The research team also excludes individuals unable to understand imaging instructions or with certain eye conditions to ensure accurate measurements.

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 the effects of acupuncture on patients with refractory rosacea, a skin condition that causes persistent facial redness and flushing. This randomized, multicenter, sham-controlled clinical trial aims to determine whether acupuncture can effectively reduce facial erythema and flushing episodes compared to sham acupuncture. The study will enroll 104 participants aged 18 to 65 years who have not responded to conventional treatments. Participants will be randomly assigned to one of two groups: the acupuncture group or the sham acupuncture group. The acupuncture group will receive electroacupuncture treatment at specific points on the face, neck, and limbs with continuous waves at 1 Hz for 20 minutes per session, twice a week for 8 weeks (total of 16 sessions). The sham group will receive non-penetrating stimulation with blunt needles at the same locations and schedule, without electrical stimulation on facial points. The study consists of a 1-week baseline observation, an 8-week treatment phase, and an 8-week follow-up phase. Participants will attend five in-person visits at weeks 0, 4, 8, 12, and an online follow-up at week 16. During these visits, researchers will assess rosacea symptoms including redness, flushing severity, burning sensation, and telangiectasia using questionnaires and clinical evaluations. They will also monitor sleep quality and quality of life. Safety will be tracked through reports of treatment-related adverse events. The total participation duration is 17 weeks, including baseline, treatment, and follow-up periods.

This research aims to learn more about individuals with Hereditary Haemorrhagic Telangiectasia and pulmonary arteriovenous malformations who are seen at Hammersmith Hospital in London. The study looks at medical information collected during regular care since 1985 to understand which patients might be more likely to experience complications such as strokes, brain infections, pregnancy issues, or lung blood pressure problems. Researchers hope to identify clinical features that predict these risks. The study is observational, meaning it reviews existing patient records and clinical measurements without giving any new treatments or interventions. It focuses on analyzing data collected as part of routine care at the hospital's specialized service for this condition. Participants are not assigned to any treatment groups but are followed to see how their clinical characteristics relate to health outcomes. Participants contribute by allowing their medical records and measurements to be reviewed over time. The main outcomes being tracked are the occurrence of strokes and venous blood clots. The study uses data gathered during standard hospital visits and treatments without requiring extra procedures. This allows researchers to monitor patient health and complications in a real-world setting over an extended period, continuing until 2028.

Researchers are evaluating how products containing Chardonnay marc, combined with cocoa flavanols, affect heart and metabolic health. This research focuses on measuring how these products influence blood vessel function and related health markers, including the gut microbiome, in adult males aged 30 to 50. The study aims to gather data that will help design future dietary trials and understands how different product forms impact the body's response, especially 6 hours after consumption when certain metabolites peak in the bloodstream. The study uses a randomized, double-blind, crossover design involving up to 5 participants. Each participant will consume different test products on separate occasions: low flavanol cocoa powder, high flavanol cocoa powder, and various servings of Vine to Bar Chocolate containing both cocoa flavanols and Chardonnay marc, including a version with almonds. Responses will be measured after single intakes followed over 6 hours to compare effects across these products. Participants will undergo assessments including the Framingham Reactive Hyperemia Index (fRHI) at 6 hours, along with tests for platelet aggregation, oxidative enzymes, glucose, insulin, and nitrate levels. The study involves close monitoring of vascular and metabolic responses after product intake. Participants will follow all procedures and visit schedules as outlined, with the total involvement lasting for the duration of these acute testing visits.

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.