Epilepsy | Active Clinical Trials
Implementation of a Research Patient Data Repository at Phoenix Children’s Hospital PI: Randa Jarrar, MD and Jeffrey Buchhalter, MD, PhD
This project will create a computer-based, automated means of searching various electronic records for data and placing those pieces of information in a Research Patient Data Repository (RPDR). Using this technology, it is possible to find, compile and categorize thousands of pieces of information on each of thousands of patients. Of note, no individual patients will be identified, thereby maintaining confidentiality.
The many pieces of information that will allow an investigator to know if a project is feasible will be obtained. At that point, the investigator can apply to the Institutional Review Board for permission to review actual records with the important data elements already extracted. The two goals of this study are to install the necessary hardware and software at Phoenix Children's Hospital to create a RPDR, and then use it to determine the number of children with difficult to control seizures at Phoenix Children's Hospital and study the outcome of children with continuous uncontrolled seizures. The RPDR will eventually be a resource for every investigator at Phoenix Children's Hospital to pursue clinical research of various diseases that will enhance the lives of our patients.
Cellular Mechanisms of Epileptogenesis in Human Hypothalamic Hamartoma Tissue PI: John Kerrigan, MD
Hypothalamic Hamartomas (HH) are congenital benign tumors that occur at the base of the brain (within the hypothalamus) that results in an unusual form of epilepsy with gelastic (laughing) seizures. Seizures usually become more severe as the children get older. One characteristic feature of this type of epilepsy is that it the seizures cannot be controlled with any available anti-epilepsy drugs. Consequently, surgical resection of the tumor is usually required for effective treatment. Since 2003, the Barrow Neurological Institute (BNI) has had a multidisciplinary program to evaluate and treat patients with this disorder. We have treated more than 200 HH patients as the only program for this disorder in the United States, and the most active program in the world. Performing surgery on a large number of patients with this rare disorder has given us a unique opportunity to study the resected tumor tissue.
Gelastic seizures arise within HH tissue and spread to the rest of the brain. The primary goal of our research is to understand the exact cellular and molecular mechanisms that are responsible for seizure onset within HH. This study will test a novel hypothesis that the small sized HH neurons (the most common neuron within HH tissue) exhibit pacemaker-like firing activity, contributing to epileptogenesis, and may serve as a specific target for treating gelastic seizures. We have previously discovered that small HH neurons do indeed demonstrate intrinsic pacemaker-like firing, and this study seeks to understand the specific ionic movements across the cell membrane that are responsible for this continuous cellular firing.
A complete understanding of these ionic movements may allow us to use pharmacological compounds (such as calcium channel blockers) that are already available for use but are not recognized as having a treatment role for other forms of epilepsy. This would be a major advance for patients with HH (potentially avoiding major surgery) but would also likely provide new insights into other more common forms of epilepsy.