View clinical trials related to Sturge-Weber Syndrome.
Filter by:Sturge-Weber syndrome (SWS) is a rare congenital neuro-cutaneous disorder considered as a rare or orphan disease. SWS is characterized by a capillary vascular malformation (CM) localized on the skin of the face, eyes and central nervous system. Given the localization and the extent of the CM, children with SWS are particularly prone to developing severe psychological problems. The standard treatment for CM is pulsed dye laser (PDL) although in these cases whitening of the lesion is rarely achieved. Combining topical rapamycin, a specific inhibitor of the mammalian target of rapamycin, with PDL is hypothesised to be a good therapeutic option in these patients.
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy. People with epilepsy have seizures. Some patients may also have eye problems and a red mark on their facial skin. This study is being done to find out if the study drug, everolimus, is safe and has helpful effects in patients with SWS who have seizures and are not responding to their current anti-epileptic medication. The study drug, everolimus (Afinitor®), is supplied by Novartis Pharmaceuticals Corporation.
Primary Objective: • To assess the possible utility of topical timolol in the management of port-wine mark (PWM) in Sturge-Weber syndrome in children.
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber syndrome). Little is known about epidemiology of port wine stains: their evolution during the growth of the child, the frequency of complications, genetic data, and prognostic factors. This prospective french national cohort will help for : description of the evolution of port wine stain and possible complications; prognostic factors for complications ; association with mutations of RASA1 gene; quality of life of these children. It will also help for global appreciation of the management of this disease in France.
This is a study of 40 individuals with Sturge-Weber Syndrome (SWS) brain and/or eye involvement. It will examine the test-retest reliability of the following clinical tests: 1. Quantitative EEG 2. Transcranial Doppler 3. Medical Rehabilitation Scales 4. Optical Coherence Tomography
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.
Sturge-Weber Syndrome (SWS) is a neurological disorder characterized at birth by seizures and a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. SWS is also accompanied by an increased pressure within the eye (glaucoma) which can develop very early in life. Glaucoma represents a group of ocular disorders that are characterized by the loss of retinal ganglion cells and their axons, damage to the optic nerve, and gradual loss of visual field. Recently, several studies provided evidence that there is a potential role of the immune system in the pathogenesis of glaucoma. These findings suggest that there might be changes in systemic humoral immunity possibly underlying the optic neuropathy in at least some glaucoma patients.