14 Clinical Trials for Various Conditions
Open-label study of an investigational product (IP), QLS-101, with 28-day every morning (QAM) dosing to both eyes (OU) in adolescents with SWS who have clinical evidence of glaucoma and/or ocular hypertension (OHT) related to SWS elevated EVP in at least one eye.
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: 1. To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients. 2. Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes. 3. 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.
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.
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).
The purpose of this research study is to gain a preliminary understanding of the safety of sirolimus in Sturge-Weber syndrome (SWS) and determine best outcomes to be used to assess the utility of sirolimus for the treatment of cognitive impairments related to Sturge-Weber syndrome.
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.
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.
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.
Safety and tolerability study of 2 concentrations of QLS-101 for adult subjects with Sturge Weber Syndrome (SWS)-related glaucoma due to elevated episcleral venous pressure (EVP).
Refractory epilepsy, meaning epilepsy that no longer responds to medication, is a common neurosurgical indication in children. In such cases, surgery is the treatment of choice. Complete resection of affected brain tissue is associated with highest probability of seizure freedom. However, epileptogenic brain tissue is visually identical to normal brain tissue, complicating complete resection. Modern investigative methods are of limited use. An important subjective assessment during surgery is that affected brain tissue feels stiffer, however there is presently no way to determine this without committing to resecting the affected area. It is hypothesized that intra-operative use of a tonometer (Diaton) will identify abnormal brain tissue stiffness in affected brain relative to normal brain. This will help identify stiffer brain regions without having to resect them. The objective is to determine if intra-operative use of a tonometer to measure brain tissue stiffness will offer additional precision in identifying epileptogenic lesions. In participants with refractory epilepsy, various locations on the cerebral cortex will be identified using standard pre-operative investigations like magnetic resonance imagin (MRI) and positron emission tomography (PET). These are areas of presumed normal and abnormal brain where the tonometer will be used during surgery to measure brain tissue stiffness. Brain tissue stiffness measurements will then be compared with results of routine pre-operative and intra-operative tests. Such comparisons will help determine if and to what extent intra-operative brain tissue stiffness measurements correlate with other tests and help identify epileptogenic brain tissue. 24 participants have already undergone intra-operative brain tonometry. Results in these participants are encouraging: abnormally high brain tissue stiffness measurements have consistently been identified and significantly associated with abnormal brain tissue. If the tonometer adequately identifies epileptogenic brain tissue through brain tissue stiffness measurements, it is possible that resection of identified tissue could lead to better post-operative outcomes, lowering seizure recurrences and neurological deficits.