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Learn How Family Testing Played a Huge Role in Transforming the Health Journey of a Newborn SAN FRANCISCO, Feb. 27, 2024 /PRNewswire/ -- BACKGROUND: Genetic testing can be a great resource to get a clearer picture of what to do next when faced with undiagnosed health conditions. It can provide you with essential health information that could improve medical outcomes as well as unlock preventative steps for your family when they get genetic testing as well. The sooner you have a confirmed diagnosis, the sooner you can take control of the healthcare journey along with your healthcare providers as partners. Experience the full interactive Multichannel News Release here: On June 4, 2021, Rowan Black was brought into the world. The hospital medical team noticed a couple of behaviors they wanted to check on, including some regular grunting, as well as occasional shaking of his arms. After being placed in intensive care for thorough monitoring and a 48-hour antibiotic treatment, the pediatrician established that Rowan was having regular seizures, providing an explanation for the grunting and shaking. His seizures were occurring just 2-4 minutes apart, and he was not responding well to medications. Toward the end of his hospital stay in early July, genetic testing results suggested that Rowan may have a rare genetic disorder called SLC13A5 citrate transporter deficiency, but it wasn't until October when his parent's own genetic testing from Invitae helped reach a definitive diagnosis for Rowan. Invitae's genetic testing for pediatric and rare diseases helps facilitate early diagnosis, access to available treatments, and next steps for patients and their families. Following the information from Invitae, Rowan's parents quickly discovered the TESS Research Foundation, a community dedicated to improving the lives of people affected by this difficult genetic disorder. Though it was a scary time, thanks to the definitive early diagnosis, Rowan is a SLC13A5 superhero and a happy two-year-old. Michael Black, Vice Chair of the Board at TESS Research Foundation and father of Rowan shares his son's medical journey, the importance of genetic testing, and how the results from genetic testing specifically benefited his family. For more information please visit: MORE ABOUT MICHAEL BLACK: Michael Black is a digital technology professional with a strong focus on the agriculture, non-profit, and charitable sectors. He has a keen ability to blend technical expertise with strategic oversight. Beyond his professional endeavors, Michael is deeply committed to volunteerism, actively contributing to various non-profit and charitable organizations. In his role at the TESS Research Foundation as Vice Chair and webmaster, Michael's personal journey intersects with his professional skills. His advocacy for genetic testing and awareness of rare disorders is driven by his son Rowan's battle with SLC13A5 Epilepsy. This experience has not only made him a champion for health-related causes but also highlights his ability to leverage technology in support of healthcare initiatives and family well-being. Michael's involvement in diverse sectors showcases his versatile skill set and his commitment to using technology as a tool for positive impact, particularly in improving lives and supporting communities through informed healthcare and active engagement in non-profit work. Produced for: Invitae (pronounced in-VEE-tay) SOURCE Invitae

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and orphan drug designations for Taysha Gene Therapies’ AAV9-based gene treatment candidate currently in development for epilepsy caused by SLC13A5 deficiency. SLC13A5, a rate form of infantile epilepsy caused by SLC13A5 gene mutations, is an autosomal recessive disorder characterized by developmental delay as well as seizures that occur within the first few days of life. The gene therapy company’s TSHA-105 candidate is the AAV9-based gene therapy granted these designations and is poised to be the first treatment for SLC13A5-related epilepsy. There are no currently approved treatments for epilepsy caused by SLC13A5, explained Taysha’s President, Founder and CEO, RA Session II, in a statement. “We are encouraged by the early evidence of TSHA-105’s disease-modifying approach and believe these designations will help us potentially accelerate the development of this exciting program,” said Session. “We look forward to working with the FDA to make TSHA-105 available to patients as expeditiously as possible.” “We are pleased that the FDA recognizes TSHA-105’s potential as an innovative therapeutic option for SLC13A5 deficiency,” added Rachel Bailey, Ph.D., Assistant Professor in Pediatric Neurology at UT Southwestern. “This disease is a debilitating form of genetic epilepsy in children that significantly impacts movement, motor control, cognition and quality of life, and there remains a need to alter the course of this disease early in life.” The FDA granted this rare pediatric disease designation due to the disease’s severity and relatively low prevalence in the population. Only diseases and disorders that affect fewer than 200,000 people in the U.S. receive the rare disease designation. Taysha’s TSHA-105 fell under the agency’s Rare Pediatric Disease Priority Review Voucher Program, which aims to “address the challenges that drug companies face when developing treatments for these unique patient populations,” according to the company’s statement about the designations. The program allows companies to become eligible for a priority review voucher after product approval, which is contingent on whether the marketing application “submitted for the product satisfies certain conditions, including approval prior to September 30, 2026 unless changed by legislation.” Sponsors who are issued a priority review voucher for priority review may redeem this voucher for another marketing application for another candidate. Taysha Gene Therapies recently teamed up with UT Southwestern Medical Center in Dallas, Texas, to launch an innovation fund that will finance discovery and development of other AAV gene therapies for monogenic diseases involving the central nervous system. And in early January, Taysha partnered with AllStripes to develop an AAV-based gene therapy, TSHA-104, for a rare disorder called SURF1-associated Leigh Syndrome. Several epilepsy drugs are currently in development by other pharmaceutical companies and are undergoing investigation for both rare and more prevalent forms of epilepsy. Johnson & Johnson’s Actelion, in conjunction with Idorsia Pharmaceuticals, is developing ACT-709478, a selective T-type calcium channel blocker, for patients with photosensitive epilepsy. Another drug being developed by Adamas Pharmaceuticals in collaboration with the Epilepsy Foundation, ADS-4101, is being studied for its effect in focal seizures. Dravet Syndrome, a rare and drug-resistant form of epilepsy, is also under the spotlight after Epygenix Therapeutics received Orphan Drug Designation for EPX-100 and EPX-200 in 2017. Currently, EPX-100 has advanced through Phase II trials, with a Phase III trial in the works for the near future. Most Read Today

The U.S. FDA has granted rare pediatric disease and orphan drug designations for Taysha Gene Therapies’ AAV9-based gene treatment candidate currently in development for epilepsy caused by SLC13A5 deficiency. The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and orphan drug designations for Taysha Gene Therapies’ AAV9-based gene treatment candidate currently in development for epilepsy caused by SLC13A5 deficiency. SLC13A5, a rate form of infantile epilepsy caused by SLC13A5 gene mutations, is an autosomal recessive disorder characterized by developmental delay as well as seizures that occur within the first few days of life. The gene therapy company’s TSHA-105 candidate is the AAV9-based gene therapy granted these designations and is poised to be the first treatment for SLC13A5-related epilepsy. There are no currently approved treatments for epilepsy caused by SLC13A5, explained Taysha’s President, Founder and CEO, RA Session II, in a statement. “We are encouraged by the early evidence of TSHA-105’s disease-modifying approach and believe these designations will help us potentially accelerate the development of this exciting program,” said Session. “We look forward to working with the FDA to make TSHA-105 available to patients as expeditiously as possible.” “We are pleased that the FDA recognizes TSHA-105’s potential as an innovative therapeutic option for SLC13A5 deficiency,” added Rachel Bailey, Ph.D., Assistant Professor in Pediatric Neurology at UT Southwestern. “This disease is a debilitating form of genetic epilepsy in children that significantly impacts movement, motor control, cognition and quality of life, and there remains a need to alter the course of this disease early in life.” The FDA granted this rare pediatric disease designation due to the disease’s severity and relatively low prevalence in the population. Only diseases and disorders that affect fewer than 200,000 people in the U.S. receive the rare disease designation. Taysha’s TSHA-105 fell under the agency’s Rare Pediatric Disease Priority Review Voucher Program, which aims to “address the challenges that drug companies face when developing treatments for these unique patient populations,” according to the company’s statement about the designations. The program allows companies to become eligible for a priority review voucher after product approval, which is contingent on whether the marketing application “submitted for the product satisfies certain conditions, including approval prior to September 30, 2026 unless changed by legislation.” Sponsors who are issued a priority review voucher for priority review may redeem this voucher for another marketing application for another candidate. Taysha Gene Therapies recently teamed up with UT Southwestern Medical Center in Dallas, Texas, to launch an innovation fund that will finance discovery and development of other AAV gene therapies for monogenic diseases involving the central nervous system. And in early January, Taysha partnered with AllStripes to develop an AAV-based gene therapy, TSHA-104, for a rare disorder called SURF1-associated Leigh Syndrome. Several epilepsy drugs are currently in development by other pharmaceutical companies and are undergoing investigation for both rare and more prevalent forms of epilepsy. Johnson & Johnson’s Actelion, in conjunction with Idorsia Pharmaceuticals, is developing ACT-709478, a selective T-type calcium channel blocker, for patients with photosensitive epilepsy. Another drug being developed by Adamas Pharmaceuticals in collaboration with the Epilepsy Foundation, ADS-4101, is being studied for its effect in focal seizures. Dravet Syndrome, a rare and drug-resistant form of epilepsy, is also under the spotlight after Epygenix Therapeutics received Orphan Drug Designation for EPX-100 and EPX-200 in 2017. Currently, EPX-100 has advanced through Phase II trials, with a Phase III trial in the works for the near future.