Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Sturge-Weber SyndromeThis 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.
Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)...
Sturge Weber SyndromeSturge 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.
SWITCH II Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis...
Neurologic DisorderParalysis10 moreThe Synchron Motor Neuroprosthesis (MNP) is intended to be used in subjects with severe motor impairment, unresponsive to medical or rehabilitative therapy and a persistent functioning motor cortex. The purpose of this research is to evaluate safety and feasibility. The MNP is a type of implantable brain computer interface which bypasses dysfunctional motor neurons. The device is designed to restore the transmission of neural signal from the cerebral cortex utilized for neuromuscular control of digital devices, resulting in a successful execution of non-mechanical digital commands.
A New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular...
Vascular DiseasesVascular Malformation4 moreLaser treatment (LT) is the first-line treatment for Vascular Pathology. However even when LT is based on the selective photothermolysis it causes the first-degree burns. While being typically benign by affecting only the epidermis, or outer layer of skin, the burn site is remaining red, dry, and very painful. As Haemoblock contains nanoparticles of silver and is known for both bactericidal and bacteriostatic effects, it likely decreases the potential for infection postoperatively. Furthermore, after fibrin replaces the superficial structure "Hemoblock-albumin", the polyacrylate matrix is plasmolyzed which initiates the cascade of signals required for the tissue regeneration processes. Objective of the study was to examine the effect of the Regenerative Solution "Hemoblock" in lowering postoperative complications in children diagnosed with Vascular Pathology undergoing a laser surgery if delivered with transdermal patches.
Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With...
Sturge- Weber SyndromeSturge-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.
tDCS for Dysphagia Associated to Brainstem Stroke
DysphagiaThe aim of the study is to investigate the effect of anodal transcranial direct current stimulation applied over the pharyngeal motor area in 60 dysphagic patients with acute isolated brainstem stroke. Thirty patients will undergo stimulation on the pharyngeal area contralateral to the side of brainstem lesion, and 30 patients will receive sham stimulation over the contralateral area, for 4 consecutive days. Patients will be re-evaluated after 4 consecutive days of stimulation. Primary outcome: The Penetration/Aspiration Scale after 4 consecutive days of stimulation. Secondary outcomes: changes in electromyographic parameters and pharyngeal cortical motor evoked potentials, changes in the Dysphagia Severity Rating Scale (DSRS), in the Functional Oral Intake Scale (FOIS), and in the "Dysphagia Limit Test", after 4 consecutive days of stimulation.
French National Cohort of Children With Port Wine Stain
Port Wine StainKlippel Trenaunay Syndrome1 morePort 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.
ECoG Direct Brain Interface for Individuals With Upper Limb Paralysis
TetraplegiaSpinal Cord Injury4 moreThe purpose of this research study is to demonstrate that individuals with upper limb paralysis due to spinal cord injury, brachial plexus injury, amyotrophic lateral sclerosis and brain stem stroke can successfully achieve direct brain control of assistive devices using an electrocorticography (ECoG)-based brain computer interface system.
Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery
EpilepsyFocal Cortical Dysplasia9 moreRefractory 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.
Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)
Sturge - Weber Syndrome (SWS)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.