Hemangioma

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 evaluate whether pulsed dye laser treatment or timolol maleate 0.5% gel can help infants with hemangiomas, which are common birthmarks caused by clusters of blood vessels. The study also examines the safety of these treatments to ensure they do not cause too many side effects. Hemangiomas typically appear soon after birth and often disappear on their own, but some require treatment due to potential health risks or disfigurement. Infants will be randomly assigned to one of three groups one receiving a series of up to six weekly or semi-weekly pulsed dye laser treatments using an FDA-cleared 595-nm laser device another receiving twice daily topical applications of timolol maleate 0.5% ophthalmic gel for up to six months or an observation group receiving no treatment. The laser treatments involve protective eyewear and carefully controlled laser energy, while the timolol dose is adjusted to cover the hemangioma area without excess medication. Participants will be monitored regularly with clinical assessments and digital photographs to measure hemangioma size and response over two years. Researchers will record treatment outcomes, side effects, parents cosmetic satisfaction, functional improvements, and any additional treatments needed. This follow-up period aims to determine how early treatment with laser or timolol affects hemangioma growth and complications compared to no treatment.

This research aims to describe the clinical, histological, and radiological features of rare primary liver cancers. It focuses on collecting tumor and blood samples to better understand these cancers and to evaluate how well treatments used in real-world practice work, with the goal of identifying the best treatment sequences. The study serves as a foundation for future research to find new molecular and imaging biomarkers that could improve diagnosis and prognosis. The study is observational and retrospective, meaning it reviews past cases from multiple centers in France. It collects biological samples and clinical data from patients diagnosed with rare primary liver cancers after January 2018. The study evaluates treatments patients have received in clinical practice without assigning any new treatments or interventions. Participants data, including clinical characteristics, tumor biology, and imaging, will be reviewed for up to five years from diagnosis. Researchers will measure outcomes such as recurrence-free survival for patients without metastases, progression-free survival for those with metastases, and overall survival. The study includes both living patients who consent to participate and deceased patients, aiming to gather comprehensive information to support future translational studies.

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.

Researchers are studying the use of two new surgical devices, the Karl Storz Curved and Straight Fetoscopes, to assist in minimally invasive in-utero surgeries. These devices help surgeons see inside the uterus during procedures to treat fetal conditions like twin-twin transfusion syndrome and other complex anomalies. The study aims to assess surgical outcomes, complications, and gestational age in patients treated with these scopes, helping to understand their potential benefits in fetal surgery. The curved fetoscope is designed for patients with an anterior placenta, while the straight fetoscope is used for those with a posterior placenta. Both scopes assist in fetoscopic laser photocoagulation, a procedure that seals abnormal blood vessels in the placenta using laser energy. This research is a non-randomized, single arm study where eligible patients undergo intrauterine procedures with either the curved or straight scopes based on placenta position. The study will collect data on the success of the procedures and related complications for descriptive analysis. Participants will be monitored through the procedure and follow-up until birth and shortly after. The study will evaluate outcomes such as the rate of completed fetoscopic procedures, fetal survival at birth, and various maternal and fetal complications. Researchers will also track gestational age at delivery, procedure length, and short-term neonatal health. The total study duration extends over several years to capture both immediate and longer-term results of using these devices in fetal surgery.

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.

Infantile hemangioma IH is a common benign tumor in infants, affecting about 4%-5% of this population. Some IH cases develop serious complications like ulceration. This research evaluates the effectiveness and safety of starting treatment with different doses of oral propranolol for ulcerated IH in young children, aiming to provide clearer prospective data on dosing strategies. Participants receive propranolol at either a low dose of 1 mgkgday or a high dose of 2 mgkgday. The study is randomized and compares these two dosing regimens over time to assess how they influence healing of the ulcerated hemangiomas. This trial is conducted in Chinese children aged from around 1 month to 4 years. During the study, researchers monitor the time it takes for the ulcer to heal, the resolution of the hemangioma six months after starting treatment, and any adverse events that occur. The treatment and observation period lasts up to 1.5 years, with ongoing follow-up to evaluate safety and effectiveness. Participants are regularly assessed throughout this period to track outcomes and any side effects.

Hepatic hemangioma is the most common benign liver tumor, seen in up to 20% of people. Typical ultrasound shows it as a bright lesion, but this is only true in about 70% of cases. Other ultrasound features may help, but often contrast-enhanced CT or MRI is needed for a clear diagnosis. Researchers are studying Fluctuational Imaging FLI, a new computer-based ultrasound method that measures tiny movements within the lesion, aiming to improve diagnosis accuracy and reduce the need for CT or MRI scans. This exploratory, multicenter study will enroll about 400 adults with liver lesions 1 cm or larger. Participants will undergo FLI ultrasound, and their lesions will be classified as hemangioma or other liver tumors using established standards. Four independent readers will review the FLI results to determine if the lesions show positive fluttering signs. The study will compare FLI positivity between hemangioma and non-hemangioma groups and explore how lesion brightness and depth affect FLI performance. Participants will have a single FLI ultrasound exam, with images anonymized for expert review. The main measurement is the presence of FLI-positive findings during the procedure. Secondary measurements include lesion brightness and depth. The study involves no additional risks beyond routine ultrasound. Results may help reduce unnecessary CT or MRI scans, lowering costs and exposure to radiation or contrast agents. The study expects to complete by the end of 2026.

Researchers are studying vascular anomalies, which are rare but can be life-threatening and severely impact children and their families. This study aims to identify non-invasive blood biomarkers that can improve diagnosis, monitoring, and treatment of these conditions. Since tissue biopsies can worsen the disease, finding specific blood markers is important to help guide new therapies. The study collects blood samples serum and plasma and tissue from participants undergoing surgical removal of vascular anomalies or sclerotherapy. Blood and tissue samples stored in a tissue bank will also be used. Researchers will measure angiogenic factors in blood samples at the start and during therapy. Tissue and blood collected will help identify where biomarkers originate and explore disease pathways for potential new treatments. Participants will have blood drawn during standard care or procedures, with consent. Tissue removed during surgery or blood taken before sclerotherapy will be used for analysis. Researchers will monitor biomarkers every two years to correlate them with diagnosis, disease severity, and response to treatment. The study involves ongoing observation and sample collection to better understand vascular anomalies and improve care.

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.