Active clinical trials for "Klippel-Trenaunay-Weber Syndrome"

Sturge weber's syndrome is an oculcutaneous syndrome, ocular manifestations may include heamangioma in the eye lids, choroidal heamangioma, or glaucoma, the glaucoma may present at infancy and may be due to resistance to aqueous outflow through trabecular meshwork(1), it may develop later and this is due to episcleral venous raised pressure.(2-3) Glaucoma associated with Sturge weber syndrome is difficult to be treated medically with high risk of complications when treated with bleb -based surgeries. Suprachoroidal hemorrhage or detachment is a challenging complication which must be encountered. The usage of Ahmed valve in the management of glaucoma associated with Sturge weber syndrome is a bleb based procedure carries the risks of over filtration or encapsulation and decreased filtration with failure to control glaucoma. The use of Ahmed valve in the management of pediatric glaucoma associated with Sturge weber syndrome has better results as recorded by Nassiri et al. Ahmed valve implantation can have some drawbacks such as pupillary irregularity, lens opacification, or encapsulation.(4-7) Glaucoma drainage devices such as Ahmed valve, Molteno or Braeveldt valve can be used when other methods of treatment fail, they provide alternative pathway to the aqueous to be collected in a plate positioned under the conjunctiva, (8-10) Encapsulation is a major problem occurs around the end plate due to fibrous reaction and so the drainage of the aqueous is decreased , Epatein (11) attributed that to fibro vascular proliferation in the episcleral tissue .the fibrous reaction is multifactorial , it may be due to the size of the end plate, the biomaterial, design or the shape of the plate. The use of drainage devices with advanced drug delivery system can improve the success of drainage device. A double-layered porous coating for Ahmed glaucoma valves based on biodegradable poly(lactic-co-glycolic acid) (PLGA) was described by Ponnusamy et al. [12] to produce continuous release of antifibrotic agents [mitomycin C (MMC) and/or 5-fluorouracil (5-FU)] to the subconjunctival space. This release continue for about one month with decreasing fibrosis, the nanofiltration membrane could entrap the proteins passing out from the anterior chamber leading to minimal increase in aqueous resistance.(12-13)

In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disorders in the future. The investigators will also study how advanced MRI, including susceptibility-weighted and diffusion tensor imaging can detect detailed signs of brain vascular and neuronal reorganization that helps improve neurological and cognitive outcome of children and young adults with SWS, who could benefit from targeted interventions in the future to minimize neurocognitive deficits in affected patients. All enrolled subjects will undergo advanced brain MRI and neurocognitive evaluation to achieve these goals.

Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. The purpose of this study is to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients. The research aims are: To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients. Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes. For enrolled patients who present with severe neurological symptoms screen blood samples for inflammatory changes. The target enrollment for this study is about 250 individuals diagnosed with Sturge-Weber Syndrome. The goal of this study is to understand more about Sturge-Weber Syndrome, the possible treatments for this disease, and identify targets for clinical trials. Those participating in the database will be asked to consent to blood draws.

Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.

The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.

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.

Primary Objective: • To assess the possible utility of topical timolol in the management of port-wine mark (PWM) in Sturge-Weber syndrome in children.

The purpose of this study is to determine the tolerability and optimal dose of cannabidiol (CBD) as an simultaneous treatment in children and young adults with Sturge-Weber syndrome (SWS) and drug resistant epilepsy.

This research is being done to find out if the Atkins Diet can be used safely and effectively to reduce seizures in children who have Sturge Weber syndrome. The ketogenic diet is a proven therapy for epilepsy, but can be difficult to use in children. The Atkins Diet is a high fat, high protein, low carbohydrate diet introduced in the 1970s to help with weight loss. It is different from the ketogenic diet in four major ways: no calorie restriction, no fluid restriction, no protein restriction, and is easy to start outside the hospital. People on the Atkins Diet become ketotic (produce high levels of ketones, a certain substance in the body), like patients on the ketogenic diet, and the investigators believe this may lead to seizure control. Children aged 2-18 with Sturge Weber syndrome and seizures at least monthly, who have used at least two anti-seizure drugs may join. 5 children in total will be enrolled.

The purpose of this study is to better understand the utility of cannabidiol (CBD/ Epidiolex) for improving the treatment of cognitive impairments in Sturge-Weber syndrome (SWS).