Find research studies available to children cared for by the Division of Neurology team.
A thorough review of outcome measures that assess disease progression has not been established for any of the subcategories of Alexander disease. These results will be crucial to our understanding of disease presentation and progression. Providing this information about the pathophysiology will allow for effective development of clinical trials to test therapies and the future use of neuroprotective agents in children.
While recent research has demonstrated that whole genome sequencing is a powerful first-line diagnostic tool, important questions remain around its long-term impact on downstream clinical management approaches. The investigators hope to address these questions by way of chart review and survey administration in a small population of suspected leukodystrophy patients who receive whole genome sequencing as part of their clinical care.
The purpose of this study to learn more about the brain function of females with Rett Syndrome and how it compares to the brain function of typically developing females. The primary investigator of the study is Dr. Eric Marsh. For our research to be successful we need to partner with families who have a typically developing daughter between the age of 1 and 17. If your child agrees to help us with our study she will be asked to:
In order to understand the conditions that affect the children cared for in the Division of Neurology, we need to better understand underlying mechanisms. This study will enable us to understand how the brain and nervous system work. The goal of this study is to collect biological samples and medical information from children to create a Neuroscience Biorepository to advance future neurological research. Any patient with a neurological condition can participate. Please talk to your provider (Nurse Practitioner or Doctor) about opportunities for your children or their friends to help.
We want to study brain responses during simulated driving and are currently looking for participants 12-17 years old or those who have had brain surgery. To do so, we'll have eligible participants come to CHOP for some non-invasive (safe) brain scans and drive using a simulator. If you are interested in learning more about the study, please contact Victoria Kaufman at kaufmanv@chop.edu or 267-425-4150.