View clinical trials related to Vascular Malformations.
Filter by:The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will collect long-term information about the participant, allowing us to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease. Another important goal of the study is to provide a way to contact people to participate in future clinical trials and other research. The registry will be a centralized resource for recruitment for clinical trials. People in the registry will not be obligated to join any of these additional studies, but if interested, can agree to be contacted if they may be eligible for a study. Participants will: - Be asked to provide permission to collect information from their medical records, including things like demographic information, diagnosis information, family history, test results, treatment information, symptoms, complications, lifestyle and other relevant medical information. - Be asked study-related questions by phone or at a clinic visit. - Be asked study-related questions every year after enrollment for up to 10 years or until the study ends. A member of the study team will communicate with participants by phone or at clinic visits to collect information regarding any changes to their health over the previous year/s including new test results, treatment information, symptoms, and complications from HHT.
Venous malformations (MVs) are congenital abnormalities of the central or periphery caused by developmental errors at different stages of embryogenesis. Histologically they are characterized by large, venous-like vascular spaces. Scleroembolization constitutes the most widespread method in the treatment of venous malformations allowing good results with low invasiveness. Currently, Bleomycin (and its derivatives) is among the most widely used sclerosing agents for slow-flowing vascular malformations (venous and lymphatic malformations) because of the low rate of local serious adverse events such as swelling, necrosis, and nerve injury compared with others.
Lympho-vascular malformations result from errors in embryologic vasculogenesis involving capillaries, veins, arteries, lymphatics, or a combination of these. Infantile haemangiomas & Vascular malformations like : Capillary malformations & Venous malformations : they increase in size and never regress on their own. & They are generally present at birth, they enlarge in response to infection, hormonal changes or trauma . Lymphatic malformations can be classified into macrocystic (cyst diameter >1cm), microcystic (cyst diameter <1 cm), or mixed , in macrocystic lymphatic malformations, surgery and sclerotherapy are effective . Surgery of microcystic lymphatic malformations remains challenging due to their infiltrative nature & Sclerotherapy is often impossible. As especially large microcystic and mixed malformations are still a therapeutic challenge, pharmaceutical treatment as sirolimus is used in last years as main line of treatment with great efficacy.
This prospective study aims to investigate and validate the use of resting-state functional MRI (rs-fMRI) and high angular resolution diffusion imaging (HARDI), specifically constrained spherical deconvolution (CSD) tractography, for functional and structural brain mapping prior to neurosurgery. The goal is to assess the feasibility of replacing task-based fMRI (tb-fMRI) and diffusion tensor imaging (DTI) with fiber tractography (FT) using the fiber assignment by continuous tracking (FACT) algorithm. The study focuses on mapping sensory-motor, language, visual, and higher cognitive functional and structural networks in patients with brain pathology suitable for surgical intervention. The objective is to improve neurosurgical planning, navigation, and risk assessment through the utilization of rs-fMRI and CSD tractography.
Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways. Targeted drugs specific to these pathways have been developed and shown to be effective in treating cancer. This study will describe the effectiveness of (i) 48 weeks of alpelisib therapy for participants with slow-flow vascular malformations and a gene mutation in one of these signalling pathways (module 1) and (ii) 48 weeks of mirdametinib therapy for participants with fast-flow vascular malformations and a gene mutations in the other signalling pathway (module 2).
Cerebrovascular malformations (CVMs) are a heterogeneous group of disorders and can be classified histopathologically into five main categories: arteriovenous malformations (AVMs), dural arteriovenous fistulas (AVDs), abnormalities of venous development or venous angiomas (VAS), cavernous malformations (CVMs), ) and capillary telangiectasis (TAC). A further classification, more useful from a therapeutic point of view, is the functional one, which provides for a subdivision into two categories: CVD with arteriovenous shunt - among which AVMs and AVD stand out - and CVD without arteriovenous shunt. AVMs and AVDs represent the two cerebrovascular malformations of greatest interest in the field of interventional neuroradiology. AVMs generally have a congenital origin, an estimated prevalence in the population of 0.005-0.6% and are most commonly diagnosed between the ages of 20 and 40, with an estimated annual bleeding risk between 4% and 4%; AVDs are rarer and have a predominantly acquired origin, in relation to previous thrombosis and trauma. Intra- and extra-parenchymal hemorrhages are a frequent finding of cerebral vascular malformations, associated or not with headache, epileptic seizures or focal neurological deficits (from mass effect or vascular steal, with consequent ischemia); in this particular situation, the patient is subjected in the shortest possible time to a clinical-anamnestic assessment, to evaluate the severity of the clinical picture, which is followed by a tomographic examination to evaluate the extent of the lesions and classify the malformation- classification of Spetzler-Martin for AVMs and Cognard or Borden classification for AVDs. Therefore, it is the authors' intention to conduct a retrospective and prospective observational study with the aim of exploring the possible implication of new variables that can predict with sufficient accuracy the outcome of patients with ruptured and unruptured cerebral vascular malformations; a possible positive response could be followed by a more structured clinical trial with which to derive the appropriate conclusions with greater methodological soundness.
This study is a two periods multi-center Phase II trial, with a 6 months double-blind, placebo-controlled period followed by open label period, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
The aim of the BEST study is to examine the feasibility of assessing patient and clinician reported outcome of a single electrosclerotherapy treatment of vascular malformations. - Sclerotherapy = injection of Bleomycin into vascular birthmarks to seal off abnormal vascular channels - Electroporation = application of an electric field to vessels treated with a handheld needle electrode - Electrosclerotherapy = a combination of Bleomycin sclerotherapy and electroporation
The purpose of the study is to assess accuracy, advantages of functional neuronavigation and calculate safe distance from motor areas to brain tumors and vascular malformations in image-guided surgery.