UTHealth Houston named first-ever SCN2A Multidisciplinary Center by FamilieSCN2A Foundation

In recognition of its expertise in treating SCN2A-related neurological disorders, UTHealth Houston has been designated as the first SCN2A Multidisciplinary Center by the FamilieSCN2A Foundation, the largest global advocacy organization for the group of disorders.

All children with SCN2A-related disorders have a mutation in the SCN2A gene, which encodes instructions to make a protein in the brain called a sodium channel. In some cases, the mutation leads to the overflow of sodium ions into the brain, while in other cases, the mutation leads to decreased flow of sodium ions into the brain. These mutations have been shown to cause epilepsy, autism, and other neurological issues such as movement disorders, dystonia, and dysautonomia.

The new multidisciplinary center — the first of its kind in the world — will be led by faculty members with McGovern Medical School at UTHealth Houston. Significantly, providers will treat both children and adults with SCN2A-related disorders, offering genetic counseling; specialized care for epilepsy, autism, and movement disorders; and access to other subspecialties. Patients will be seen at UT Physicians Pediatric Specialists - Texas Medical Center.

Dennis Lal, PhD, associate professor and director of the Center for Neurogenetics in the Department of Neurology at UTHealth Houston, will lead the genetic counseling program at the center. Lal, who has published more than 150 research papers on genetic epilepsies and many on SCN2A-related disorders specifically, said this specialized program will not only inform families and patients about their specific SCN2A prognosis, but also incorporate mutation-specific information to improve the care decisions made by treating neurologists.

“For a long time, the full spectrum of this condition was unclear because symptoms can look different depending on the version of the defect in the gene,” said Lal, who has served as a scientific advisor for the FamilieSCN2A Foundation since 2013. “But today, because of our experience treating this family of disorders, we can have patients reevaluated from a genetic perspective in order to optimize their needs. By determining which version of the disease patients have, we can select the appropriate therapies to reduce seizures and design customized referral strategies.”

Gretchen Von Allmen, MD, professor, director of the Division of Child and Adolescent Neurology, and director of the pediatric epilepsy program in the Department of Pediatrics, will lead the center for pediatric epilepsy patients, while Samden Lhatoo, MD, professor and the John P. and Kathrine G. McGovern Distinguished Chair in the Department of Neurology, will lead the center for adult epilepsy patients.

“Like many other causes of epilepsy and developmental problems in children, there are a number of body systems that are affected by SCN2A-related disorders in addition to the brain, including the respiratory system, bones and muscle, vision, the gastrointestinal system, and others,” said Von Allmen, who is also the Jacobo Geissler Distinguished Chair in West Syndrome Research. “At this center, we have genetic experts, epilepsy experts, and pediatric subspecialists who can all work together to take care of the whole patient. It really cuts down on the journey that these families go on to find experts in their child’s disease.”

Studying the condition in adults will also be critical, Lhatoo said.

“This is an important condition that we hope will soon be treatable with the advent of gene therapies, but unfortunately, it’s also a neglected area of study, and little to nothing is known about the disease trajectory, especially in adults,” Lhatoo said. “The multidisciplinary center goes a long way in addressing this gap in knowledge and therapeutics.”

Leah Myers, executive director of the FamilieSCN2A Foundation, said the foundation is excited to partner with UTHealth Houston to host the first SCN2A Multidisciplinary Center.

“Multidisciplinary centers are crucial for navigating the complexities of SCN2A-related disorders, ensuring comprehensive care, and fostering collaboration toward innovative treatments,” Myers said. “It’s a relief for families like ours not to have to be the experts in the rare disease that affects our children. At UTHealth Houston’s SCN2A Multidisciplinary Center, we can rely on a team of specialists dedicated to our child’s well-being, who can help us stay ahead of potential comorbidities and keep us apprised of upcoming clinical trials.”

According to the foundation, the coordination of care allows for proactive rather than reactive treatment of SCN2A-related disorders, which should improve the treatment and quality of life of patients and caregivers. The families also look forward to opportunities to contribute to SCN2A research and future clinical trials, which could support transformative new medications for the condition.

“This is a major advancement for the SCN2A community. Having a center where families can quickly get up to speed on how to manage their child’s condition is something that our community has been asking for, as it has the potential to save lives and improve others,” said Shawn M. Egan, PhD, chief scientific officer of the FamilieSCN2A Foundation. “Additionally, this center can be a major inflection point for research and drug development for SCN2A-related disorders.”

Thanks to the foundation’s efforts, Gov. Greg Abbott has proclaimed Feb. 24 as SCN2A Awareness Day in Texas. The date is significant because the SCN2A gene is located on the long arm of chromosome 2 at position 24.3. 

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