3D Phase Sensitive Inversion Recuperation MRI to Detect and Characterize Multiple Sclerosis Spinal...
Multiple SclerosisThis study aims to assess the interest of 3D Phase Sensitive Inversion Recuperation (PSIR)sequence in the MRI detection of spinal cord lesion. It will compare the sensitivity of this MRI sequence compared to the T1 and T2 sequences recommended in the assessment of neuraxis inflammatory diseases.
Tecfidera and MRI for Brain Energy in MS
Multiple SclerosisThe primary objective of this study is to test the hypothesis that DMF can improve mitochondrial function in the brain of people with MS. The investigators will assess mitochondrial function in the cerebral grey matter by measuring PCr and ATP by 31P magnetic resonance spectroscopy (MRS) and NAA in NAWM by 1H MRS.
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
Hypomelanotic MaculesFacial Angiofibroma7 moreInternational, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
AutismTuberous SclerosisBackground: Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism. The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism. Objectives: - To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers. Eligibility: Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers. Some of the healthy volunteers will be siblings of children with autism. Design: Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation. Participants will provide a blood sample and a skin biopsy for further study. No treatment will be provided as part of this protocol.
Satisfaction Survey for Amyotrophic Lateral Sclerosis (ALS) Patients Comparing Rooms With and Without...
Amyotrophic Lateral SclerosisNeurodegenerative Disease1 moreThe purpose of this study is : To assess the ALS patient's satisfaction related to a hospital stay on the neurology floor of Hahnemann Hospital. To compare the reported satisfaction of those individuals who stayed in a standard hospital room with those who stayed in Room 1455. Room 1455 is a room specifically set up with assistive technology related to environmental controls for individuals with disabilities. To look at frequency of use of the various pieces of adaptive equipment.
Evaluating Pulmonary Arterial Hypertension in Patients With Systemic Sclerosis
Systemic SclerosisPulmonary HypertensionDoppler signals can be recorded from the lung parenchyma by means of a pulsed Doppler ultrasound system incorporating a special signal processing package- the Transthoracic Parametric Doppler (TPD) (Echosense Ltd., Haifa, Israel). Systemic sclerosis patients often develop pulmonary vascular disease leading to pulmonary hypertension. The TPD system may provide important insight into pulmonary blood vessels characteristics by the LDS (Lung Doppler Signals) signals that are related to pulmonary hypertension. The TPD performance in detecting PAH in SSc patients will be assessed in the study.
MEasuring Satisfaction of Treatment With REbif After Initial Treatment of Multiple Sclerosis (MS)...
Multiple SclerosisThis is a prospective, multicenter, open label, uncontrolled, non-interventional, single arm study to measure treatment satisfaction of relapsing remitting MS (RRMS) participants on Rebif after discontinuing initial first-line treatment.
Linking Cognitive Functioning to Multimodal Imaging in Multiple Sclerosis (MS)
Multiple SclerosisCognition DisordersMultiple sclerosis (MS) is the most common progressive neurologic disorder to occur in adults of working-age. Despite longstanding recognition of cognitive impairment as a symptom of MS, two obstacles in measurement have limited understanding its biological basis, and therefore identifying targeted options for management. First is the absence of a sensitive and precise measure of cognitive impairment. Second is the absence of an index of disease status linked to brain pathophysiology and cognitive performance. This project overcomes both obstacles to link cognitive impairment to MS disease biomarkers. The absence of a sensitive and precise measure of cognitive impairment, along with the absence of an index of disease status linked to brain pathophysiology and cognitive performance, limits the understanding of the biological basis for multiple sclerosis (MS). This project overcomes both obstacles to link cognitive function to MS disease biomarkers, and provides preliminary evaluation of a disease modifying therapy (Tecfidera) for preserving cognitive function.
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.
Observational Study of Rebismart®2.0 + MSdialog™ in Subjects With Remitting Multiple Sclerosis (ADHERQOL)...
Multiple SclerosisRelapsing-remittingThis is a 24-month, observational, prospective, multinational, multicenter study to determine the relationship between the relapse (percentage of relapse free subjects) and adherence in subjects diagnosed with RRMS treated with Rebif (interferon beta-1a) using the RebiSmart®2.0 and MSdialog™.