SLC13A5 Deficiency (EIEE 25, Citrate Transporter Disorder, non-ROGDI Kohlschutter-Tonz) is a newly- described (2014) autosomal recessive epileptic encephalopathy, with seizure onset in the first few days of life. Although rare, this life-threatening epilepsy affects both boys and girls of all races and ethnicities. As SLC13A5 Deficiency causes a spectrum of developmental delay and multi-system complications, there is a need to assemble industry, clinicians, and researchers from the fields of genetics, transporters, neurology, metabolics, diabetes, movement disorders, dentistry, and gene therapy. The International SLC13A5 Deficiency Research Roundtable addresses this need. This unique one-day conference has a proven track record of spurring collaboration among key stakeholders. Kimberly Nye has organized all four Roundtables in her capacity as president of TESS Research Foundation, which is the only nonprofit organization in the world solely dedicated to SLC13A5 Deficiency. Although the Roundtable focuses on SLC13A5 Deficiency as it presents in children with the neurological disease, there is also discussion about the gene?s role in a resistance to type-2 diabetes, longevity, and aging. We further broaden our impact by discussing the epileptic encephalopathies and epilepsy, which serve as umbrella diagnoses for our patient population. This year?s conference will be the 4th International SLC13A5 Deficiency Research Roundtable to be held on March 23rd in Dallas, Texas. This location was chosen as the University of Texas Southwestern Medical Center (UTSW) in Dallas is at the forefront of gene therapy development for monogenic neurological diseases, including SLC13A5 Deficiency. Dr. Rachel Bailey, PhD is a key member of the gene therapy program at UTSW, working closely with clinicians in the Department of Pediatric Neurology to move towards clinical readiness for rare neurological disorders that she developed gene therapy vectors for, including SLC13A5 Deficiency. A major aim of this conference is to identify key steps in preparing for a gene therapy trial. Experts in their respective fields will be brought together with the authorities on SLC13A5 Deficiency and families with affected children to synergize research efforts. Speakers and attendees will present data, discuss progress and setbacks, set research priorities, and create a roadmap to better understand disease mechanism and to develop treatments for SLC13A5 Deficiency and related diseases. Trainees and junior faculty, particularly from under-represented minority groups, will be targeted for attendance and will be encouraged to submit abstracts for presentation and travel award consideration. Though we are requesting only one year of funding for this conference, we plan to continue an annual format to maintain collaborations between investigators and continue momentum forward in realizing a transformative treatment for SLC13A5 Deficiency.

Public Health Relevance

SLC13A5 Deficiency is a devastating epileptic encephalopathy with no disease-modifying treatments currently available. We propose our 4th International SLC13A5 Deficiency Research Roundtable to bring together families, clinicians and scientists with diverse expertise. It is anticipated that this conference will build upon the clinical and scientific gaps identified at our previous Research Roundtable and enable researchers to develop translational research programs and clinical trial readiness based on knowledge gained.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Conference (R13)
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Special Emphasis Panel (ZNS1)
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Whittemore, Vicky R
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University of Texas Sw Medical Center Dallas
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United States
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