Hereditary Hemorrhagic 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.

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 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.

Researchers are evaluating the safety, pharmacokinetics, pharmacodynamics, and preliminary effectiveness of an anti-GPRC5D CAR-T cell product called OriCAR-017 in adults with relapsed or refractory multiple myeloma. This Phase III open-label study is the first clinical trial of OriCAR-017 in the United States by OriCell Therapeutics Co., Ltd., aiming to find suitable dosing and assess early treatment results in this patient group. The study includes a Phase I dose escalation stage with three different doses given as a single intravenous infusion to up to 18 participants. This is followed by a dose expansion stage with 10-15 participants and then a Phase II stage that may include up to 48 participants. Each participant receives one infusion of OriCAR-017 to evaluate its effects and safety. Participants will be closely monitored for up to two years after treatment. Researchers will assess the maximum tolerated dose and dose-limiting toxicities within 28 days after infusion. They will also study how the drug moves through and affects the body, measure response duration, progression-free survival, overall survival, and other response rates. Regular evaluations include laboratory tests, clinical assessments, and safety monitoring throughout the study period.

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 comparing the effects of xylometazoline nasal drops and adrenaline nasal packing on nasal bleeding during nasotracheal intubation in participants undergoing elective oromaxillofacial surgeries. The trial aims to determine which of these two treatments better reduces nasal bleeding during the procedure. This study includes participants aged 18 to 60 years with specific health criteria to ensure safety and accuracy. Participants are randomly assigned to one of two groups. One group receives 0.1% xylometazoline nasal drops, administered as 3 to 5 drops in the selected nostril 15 minutes before surgery. The other group receives adrenaline nasal packing, where a gauze soaked in adrenaline is placed inside the nostril 15 minutes before surgery and removed after 7 to 10 minutes. Both groups undergo nasotracheal intubation under general anesthesia with careful monitoring. Throughout the study, participants will have vital signs monitored, including blood pressure, heart rate, ECG, and oxygen saturation. An experienced anesthesiologist will perform the procedures and record the incidence and severity of nasal bleeding during intubation and extubation. Data will be analyzed to compare bleeding outcomes between groups while considering factors like age, gender, and medical history. Participation lasts through the surgical procedure and immediate recovery monitoring.

Researchers are investigating autologous testicular tissue transplantation as a method to restore fertility in men who had their testicular tissue frozen as prepubertal boys due to cancer or hematological diseases. This approach is considered when no sperm suitable for intra-cytoplasmic sperm injection ICSI is found in the ejaculate despite cryopreservation efforts. The goal is to restore spermatogenesis and fertility by transplanting the preserved tissue back into the patient. The study involves transplanting autologous testicular tissue that was previously frozen during childhood. Men who return for transplantation will first undergo semen and blood analyses. If no usable sperm are found, the transplantation procedure will be performed. Graft removal and histological studies will occur 12 months after grafting. Participants will be followed up with imaging, hormonal, biomarker, and complication assessments at 3, 6, 9, 12, and 15 months post-grafting. Participants will be monitored closely for up to 15 months after transplantation to assess restoration of sperm production and overall fertility. Evaluations include semen analysis for sperm presence in the graft, imaging, hormonal studies, and biomarker assessments at specified intervals. Safety and potential complications will also be tracked. The study aims to provide important information on the feasibility and outcomes of this novel fertility restoration method.

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 hospitals 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 the safety of a treatment involving CD7 CAR-T cells followed by allogeneic hematopoietic stem cell transplantation allo-HSCT for patients with CD7-positive relapsed or refractory malignant hematologic diseases. This single-arm, open-label, phase III study aims to assess safety outcomes and is sponsored by Zhejiang University. The trial focuses on patients with specific types of acute leukemia that are resistant to or have relapsed after standard treatments. Participants will receive an infusion of CD7 CAR-T cells designed to target cancer cells expressing CD7. This treatment is followed by allo-HSCT as a bridging therapy to further support recovery. The study includes monitoring of the CAR-T cell expression, cytokine levels related to CAR-T therapy, and various survival and remission outcomes over time, with evaluations scheduled from weeks to months after treatment. During the study, participants will undergo assessments including adverse event monitoring up to 28 days after CAR-T infusion, laboratory tests, and evaluations of remission and survival status up to two years post-treatment. Researchers will also monitor bone marrow transplantation success and minimal residual disease over extended follow-up periods. The total participation time and detailed evaluation schedules are designed to thoroughly understand the safety and effects of this combined treatment approach.

This research aims to collect and assess clinical data on patients using the Lifetech Cera Vascular Plug System, a device designed for arterial and venous embolization in the peripheral vasculature. The studys purpose is to confirm the safety and performance of this device, identify any previously unknown side effects, monitor known side effects related to the device or procedures, and analyze emerging risks associated with its use. Participants will receive treatment with the Cera Vascular Plug System, which includes a self-expandable cylindrical Ni-Ti wire mesh plug and an accessory introducer kit. The study is observational and single-arm, enrolling patients who require arterial or venous embolization in the peripheral blood vessels. Each participant will be followed for approximately one year after the procedure to monitor outcomes and any device-related events. During the study, participants will undergo evaluations to measure technical success at the time of the procedure and follow-up assessments at 3, 6, and 12 months to detect clinically relevant recanalization and migration. Researchers will also monitor adverse events, serious adverse events, and device deficiencies throughout the year. The study includes various clinical visits and assessments to ensure thorough safety and performance monitoring over the total participation period of one year.