The strength of TESS Research Foundation comes from YOU, our TESS Community. You are helping us pursue our mission of improving the lives of families affected by SLC13A5 Epilepsy as we seek early diagnosis, effective treatments, and ultimately a cure for this complex neurological disorder.
But numbers don’t tell our whole story. And being one of 7000+ rare diseases doesn’t tell our whole story.
SLC13A5 Epilepsy is a rare genetic epilepsy that knows no geographic boundaries. You are helping to build a supportive, connected, and information-based community for children and families affected by SLC13A5 Epilepsy. When a child receives an SLC13A5 Epilepsy diagnosis, it can be a relief for parents. But it’s also emotional. And overwhelming. And scary.
With your help, we now have identified more than 93 families and 120 children from five countries on nearly every continent! We host monthly Family Support Zoom calls, publish a Family Newsletter, and run a private Facebook group for affected families. On these platforms, we share perspectives, offer comfort, and foster connections between families who truly understand what it means to have a child with SLC13A5 Epilepsy.
By funding basic science research, you are advancing our understanding of the SLC13A5 gene, the protein NaCT, and its role in citrate transport into the cell. You are also making possible the study of SLC13A5 Epilepsy using patient-derived iPSCs; the launch of digital, remote, and in-person Natural History Studies; and progress towards treatments and a cure for SLC13A5 Epilepsy. Your support provides seed funding for SLC13A5 research, which then enables research teams to apply for grants from larger organizations like the NIH to continue their SLC13A5 studies.
While seizures are among the key manifestations of SLC13A5 Epilepsy, we know all too well that there are many other symptoms of this severe neurological disorder and it is important to recognize and study all aspects of the disease. This year, TESS Research Foundation partnered with Uplifting Athletes to support Naomi Dirckx, PhD, and her studies on the role of citrate in bone and tooth development. Dr. Dirckx now has detailed micro-CT scans from primary teeth received from patients affected by SLC13A5 Epilepsy and she found very similar features compared to the mouse models. This will enable us to start understanding why defects in citrate metabolism affects tooth mineralization in SLC13A5 patients!
Gene therapy—the process of introducing a healthy copy of a gene—is a scientific advancement that brings incredible promise and requires great patience. It isn’t unusual for a gene therapy pathway to be long—9 to 15 years—and costly—upwards of $3 billion from pre-discovery to market.
Rachel Bailey, PhD, and her laboratory at UT Southwestern, developed an SLC13A5 gene therapy model in mice. Dr. Bailey and is currently working with Taysha Gene Therapies to develop a protocol for clinical trials. In January 2021, Taysha announced it received both rare pediatric disease and orphan drug designations from the U.S. Food and Drug Administration for TSHA-105, an AAV9-based gene therapy in development for SLC13A5 Epilepsy. In August, the European Commission awarded TSHA-105 Orphan Drug Designation—these designations help to identify SLC15A5 gene therapy as a potentially promising treatment for those affected by SLC13A5 Epilepsy. We look forward to sharing our continued progress in this area.
Our vision is large and the steps toward a cure may seem incremental. However, in eight years, TESS Research Foundation has gone from gene discovery to the prospect of a gene therapy for SLC13A5 Epilepsy.
Because parents—and siblings—are the day-to-day caregivers and advocates, it is important to acknowledge that SLC13A5 Epilepsy affects families, not just the individual diagnosed with SLC13A5 Epilepsy. By centering the patient voice, we ensure the family is recognized as the true expert of the SLC13A5 Epilepsy. It is important for regulatory bodies like the FDA to have documented and published data detailing the symptoms and progression of disease. With your support, we launched a 3-part Natural History Study (NHS) to aid in our understanding of SLC13A5 Epilepsy over time. The study includes a:
medical records collection and analysis with Ciitizen
telehealth visits and questionnaire
patient visits at Stanford, Brown, or UTSW / lab analysis of biomarkers
In March 2020, we began partnering with Ciitizen for SLC13A5 Epilepsy medical records collection and the digital component of the NHS. We have enrolled nearly every family diagnosed with SLC13A5 Epilepsy in the United States. In addition to enabling the medical community to learn about SLC13A5 Epilepsy using de-identified data through a centralized repository of medical data, this partnership also empowers families to better understand and control their medical data. We are now analyzing this information and sharing it with the scientific and clinical communities. Most importantly, this is communicating what families already know about SLC13A5 Epilepsy – that it is a complicated, life-altering disease that includes more than seizures – to the people who are studying SLC13A5 Epilepsy.
Brenda Porter, MD, PhD, is leading our multi-site, in-person Natural History Study. Dr. Porter launched the study at Stanford in collaboration with Judy Liu, MD, PhD, at Brown University and Kim Goodspeed, MD, at the University of Texas Southwestern (UTSW). The goal of this study is to better characterize the course of the disease and identify biomarkers for SLC13A5 Epilepsy. What we learn will be crucial to advancing drug treatments and gene therapies into clinical trials! We are so appreciative of the families who are participating in our Natural History Study, which is made possible by YOU!
Two years ago, the Chan Zuckerberg Initiative (CZI) awarded TESS Research Foundation a transformative $450,000 capacity-building grant and an opportunity to build and strengthen relationships with others in the rare disease space. This year, we were awarded an additional $150,000 and continued engagement with the Rare As One Network. In addition to expanding our team to include a scientific director and a development director, we have gained invaluable resources and partnerships that are elevating our ability to educate, advocate, and build community:
Our Science Simplified blogs, with topics ranging from How to Read a Scientific Paper to What is Gene Therapy? make SLC13A5 science accessible to patients, families, donors, and our broader community.
Building awareness is vital to our continuing pursuit of diagnosing, treating, and curing SLC13A5 Epilepsy. Last year, TESS Founder and executive director Kim Nye was invited to speak at more than ten partner, industry, and peer organizations and was a guest on three podcasts. Kim shared her family’s story and her perspectives on building a patient-centered network, gene therapy, and clinical trial readiness.
TESS continues to have a growing presence on three major social media platforms, and we are grateful for every interaction, like, retweet, and share! The creation of a community is invaluable to our fundraising efforts—12 Facebook fundraisers raised more than $20,000!—and you are vital to our ability to reach as many people as possible. Our SLC13A5 Epilepsy Superheroes are easily the most engaging but we are grateful to everyone who helped spread the word on SLC13A5 Awareness Day and every day.
THANK YOU, TESS Community, for powering TESS Research Foundation.