Every case of SLC13A5 Epilepsy is different. We need as many unique cases as possible to understand the big picture. That’s why YOU are so important. Your unique case could unlock answers to the cure, aiding both you and others with a similar diagnosis.
TESS Research Foundation is here to guide you to the most promising research opportunities. Share your information, results, and experience through projects reviewed and approved by TESS’ esteemed Scientific Advisory Board (SAB). Research might include phone interviews, surveys, video recordings, visits to a clinical setting, blood tests, and more. You decide which studies are right for your family and loved one(s). If you have questions, TESS will help you every step of the way. Contact firstname.lastname@example.org.
- Enroll in the TESS Contact Registry. The TESS registry collects basic information including your loved one’s diagnosis, age, gender, and geography. This will take less than 5 minutes. Please have your loved one’s genetic report available in a digital format. If your report isn’t in a digital format, please either take a photo or scan the pages of your loved one’s physical genetic report. When you upload the genetic report to the registry, our team will analyze your loved one’s unique genetic mutation. Benefits to registrants include:
- Joining a Research Network gathering patient information toward understanding SLC13A5 Epilepsy.
- Keeping you up-to-date on the latest information regarding SLC13A5 Epilepsy.
- Staying informed about opportunities to participate in research and clinical trials.
- Receiving family meeting invitations, special mailings, and information regarding any discoveries about SLC13A5 Epilepsy that would impact care decisions.
- Join our Digital Natural History Study. TESS Research Foundation has partnered with a company called Ciitizen for an SLC13A5 Epilepsy Medical Records Collection and Digital Natural History Study. This study empowers families to better understand and control their medical data, helps researchers gain a better understanding of what SLC13A5 Epilepsy looks like over a patient’s lifetime, and accelerates the development of life-changing treatments and cures.
- Participate in the Remote and In-Person Natural History Study. Our multi-site Natural History Study began at Stanford in collaboration with Brown University and University of Texas Southwestern (UTSW) to better characterize the course of the disease and identify biomarkers for SLC13A5 Epilepsy. This study is crucial to advancing drug treatments into clinical trials. To participate, contact email@example.com.
- Participating in all three Natural History Studies (Digital, Remote, and In-Person) is critical for our community. These complementary studies inform researchers how SLC13A5 Epilepsy changes over time, enabling more effective design of clinical trials, facilitating the development of more targeted therapies, and speeding up the time it takes to get therapeutics to patients.
- Donate Samples to SLC13A5 Epilepsy Biobank. A biobank or a repository is a collection of biological samples like blood, tissues (skin biopsies), and cells (iPSCs) from loved ones and their families. These samples may be distributed to scientists for use in research. Biobanks are especially beneficial for rare disease communities like ours, as they provide a central resource of patient samples, accessible to all the researchers who are interested in studying our disease. It’s easy and free to participate in this Biobank and doing so brings our loved ones closer to the possibility of a cure. If you are interested in having a kit sent directly to your home, contact firstname.lastname@example.org.
- Get Citrate Level Testing. Researchers have found that some people with SLC13A5 Epilepsy have increased levels of citrate in their blood and Cerebrospinal Fluid (CSF). To determine if the level of citrate could be used to diagnose SLC13A5 Epilepsy (as a diagnostic biomarker), researchers need to study citrate levels in more people with this disorder and their carrier parents. If you provide your invaluable contribution to this study, it might make the diagnosis for SLC13A5 Epilepsy cheaper and faster and also open new avenues for treatment. If you are participating in the In-Person Natural History Study, your citrate level will be tested. Alternatively, we urge you to take the citrate test form to your doctor and get the citrate levels tested for your loved one(s) and yourself. If you have any questions or need assistance, contact email@example.com.
- Get Gene Therapy Ready. It’s an exciting time and SLC13A5 Epilepsy is pleased to be one of several diagnoses for which gene therapy is being developed. Gene Therapy is the process of delivering the missing gene (i.e., SLC13A5) directly to the appropriate cell type using an engineered virus. Targeted new therapies for SLC13A5 Epilepsy are on the horizon and could impact your loved one’s care.