Cavernous Malformation

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 non-invasive imaging methods to assess skin blood flow dynamics. This study aims to test and validate how well these imaging technologies perform by using a pressure cuff to create changes in blood flow, ranging from low flow (ischemic) to high flow (hyperemic). The focus is on establishing the basic feasibility of these imaging tools in detecting vascular changes. The study uses Multi-Spectral Imaging and Laser Speckle Imaging, both non-contact optical devices. Multi-Spectral Imaging measures concentrations of total, deoxygenated, and oxygenated hemoglobin in tissue, while Laser Speckle Imaging measures relative blood flow at different times. A pressure cuff occlusion is applied to stimulate changes in blood flow for these devices to detect. Participants will be observed using these imaging methods during vascular occlusion procedures. The main outcome measured is skin blood flow over a 4-week period. The study includes healthy volunteers aged 18 and older and involves non-invasive tests without treatment. Researchers will monitor blood flow changes and the performance of the imaging devices during the study period, which began in 2011 and is expected to continue until 2028.

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 whether the widely available artificial intelligence platform ChatGPT can accurately identify abnormalities on cytology specimens taken during endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) of solid mass lesions in the gastrointestinal tract. The study compares AI interpretations with those made by experienced cytopathologists, who are considered the gold standard. The research aims to address the limited availability of onsite cytopathology services that currently affect diagnostic accuracy and efficiency. The study involves the use of EUS-guided fine needle biopsy to collect cytology specimens from solid mass lesions in the gastrointestinal tract. There are two interpretation groups: one where cytopathologists review specimens onsite, and another where the AI program analyzes the samples. The study observes and compares diagnostic accuracy between these two methods without intervening in patient care. Participants will undergo the biopsy procedure, and their cytology specimens will be evaluated either by onsite cytopathologists or by the AI program. Researchers will measure the diagnostic accuracy at rapid onsite evaluation within one day and compare it to final pathology results obtained within seven days. The study is observational and will monitor these outcomes without additional treatment, lasting until October 2027.

Proper management of the area after tooth extraction is essential for good healing and to prevent complications. Healing begins quickly after injury, with the formation and stabilization of a blood clot being key for recovery. This study is evaluating whether using ultrasonic cavitation, generated by a piezoelectric device, can reduce healing time and pain after tooth extraction. Participants will undergo extraction of two similar single-rooted teeth on opposite sides of the same jaw. After extraction and cleaning the sockets, one side will receive 90 seconds of ultrasonic cavitation treatment using a special insert with saline solution, while the other side will receive only saline irrigation. Both sites will then be closed with an "X" suture. Patients will be given pain medication instructions and will complete daily pain ratings for 7 days. Follow-up visits will occur on days 3, 7, 14, and 21 to assess healing using a modified Healing Index that scores tissue color, consistency, suppuration, and bleeding. Researchers will analyze tissue quality and pain scores over this period. Data will be collected anonymously and statistically compared to understand the effects of the cavitation treatment on socket healing.

This research aims to evaluate the long-term outcomes and complications of amygdalo-hippocampectomy using the surgical method developed by Professor Coubes at the University Hospital of Montpellier. It focuses on patients treated for hippocampal sclerosis and other internal temporal diseases, investigating factors associated with better seizure control and the evolution of clinical results. The study includes data from 234 patients treated over the past 30 years, covering both adults and children. The study analyzes clinical information retrospectively, including demographics, surgical and imaging data, and seizure outcomes based on ILAE criteria. It examines post-operative complications, return-to-work rates, and social reintegration. The method studied features precise anatomical targeting and surgical pathways designed to reduce neurological deficits and improve seizure control, distinguishing it from other surgical techniques such as the Yasargil approach. Participants' medical records will be reviewed to collect data on seizure control, complications like infections and hematomas, and medication use before and after surgery. Statistical analyses will identify predictors of success or failure after surgery. The study spans from 2024 to 2025 and ensures data privacy by pseudonymizing patient information. Results aim to provide clinical insights, comparative perspectives, and educational value in neurosurgical practice.

Researchers are evaluating sirolimus, a drug approved by the FDA and used for certain malformations, to see if it is safe and tolerable in reducing brain hemorrhages in people with brainstem cavernous malformations (BSCMs). This pilot phase 2 clinical trial compares sirolimus to a placebo to inform a future larger study. The focus is on preventing intracerebral hemorrhage (ICH) during high-risk periods for rebleeding in adults aged 18 to 65. Participants are randomly assigned to one of three groups: high-dose sirolimus targeting blood levels of 9-15 ng/ml, low-dose sirolimus targeting 3-7 ng/ml, or a placebo made of starch. Treatments are taken orally and continued continuously for 12 months. The study is blinded so that neither participants nor researchers know the assigned group. During the 24-month follow-up, researchers will monitor safety and tolerability of sirolimus, track recurrent brain hemorrhages, assess brain scans using MRI, and evaluate participants' quality of life. Participants will undergo regular assessments including imaging and clinical evaluations to measure these outcomes. The study aims to gather important data on sirolimus treatment effects and safety over two years.

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.

Rare Diseases (RD) pose a health challenge due to their complexity and low prevalence, generating a burden in terms of morbidity and mortality and costs. The fragmentation of data on these diseases makes it difficult to understand them comprehensively. Therefore, the creation of a macro institutional registry that brings together information on RD would facilitate research in this field. The registries are organized systems of systematic data collection of a large number of patients quickly and efficiently on a particular disease at a given time. The main difficulty of the registries is the guarantee of the quality of their data. The main objectives of the registry are: Understand risk factors and prognosis. Evaluate the diagnostic and therapeutic comparison with current standards. Advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients. Analyze the effectiveness of new therapies. Studying differences between populations. Quickly estimate the morbidity, mortality and resource utilization associated with a disease entity. Examine the course of a disease Formulate novel hypotheses for further prospective studies.

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 device's 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 device's 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.