GALT

Govorestat (AT-007) demonstrates consistent and sustained clinical benefit in children with galactosemia across symptoms of greatest concern to patients and caregivers ALBANY, N.Y., April 26, 2023 /PRNewswire/ -- The Galactosemia Foundation, a non-profit charitable organization that advocates for people with galactosemia and their families, urges the U.S Food and Drug Administration (FDA) to incorporate the experiences and perspectives of people living with galactosemia and their caregivers in the agency's review of govorestat (AT-007), the potential first-ever treatment for this rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications. The Galactosemia Foundation has shared qualitative data on the patient journey and burden of disease with the FDA on several occasions including an externally led patient-focused drug development meeting held in September 2022, patient and caregiver focus groups and direct outreach to the agency. The results of the ACTION-Galactosemia Kids registrational clinical study evaluating govorestat in children with galactosemia were recently announced. The study sponsor, Applied Therapeutics, also announced its plans to request a meeting with the FDA as soon as possible to discuss a potential New Drug Application (NDA) submission in the second half of 2023, as well as its intention to submit a Marketing Authorization Application (MAA) with the European Medicines Agency (EMA) in mid-2023. "We implore the FDA – as an organization dedicated to meeting the needs of patient communities – to carefully consider galactosemia patient and caregiver experiences, including data we have shared with the agency from an externally led patient-focused drug development meeting and additional patient and caregiver focus groups, during their review of govorestat to understand how meaningful the approval of this medication could be for enabling our children to live more independent lives," said Brittany Cudzilo, vice president of the Galactosemia Foundation and a mother of two children with galactosemia. "As a galactosemia advocate, I have a broad perspective on the symptoms of greatest concern to our community and am enthusiastic about the evidence that govorestat is a safe and effective medicine that can improve many of these symptoms, including activities of daily living, behavior, cognition, fine motor skills, adaptive skills and tremor." "As a mother, my perspective is deeply personal," Ms. Cudzilo continued. "During her time in the govorestat clinical trial, although we were blinded to treatment, my five-year-old daughter Ansell has seen marked improvement in her ability to express herself, remember friends' names, regulate her emotions and build relationships. She may lose access to this medicine, which has become a gateway to a more fulfilled life for her, if it is not approved. My youngest daughter Louise, who is 18 months old and also lives with galactosemia, may never have access. For patients experiencing life-altering symptoms and irreversible damage from galactosemia every day, and for the caregivers who experience this journey with their loved ones, govorestat represents new hope and a chance at a better life." Galactosemia was discovered in 1908. The galactosemia community has gone more than a century with no approved treatment. The time for change is now. About Galactosemia In medical terms, galactosemia is an ultra-rare genetic metabolic condition in which a child is born without the GALT enzyme which breaks down the simple sugar galactose. Instead of leaving the body like it would if GALT were present, the galactose stays and causes poisonous byproducts to be released, including galactitol. These agents enter the body and cause damage to internal organs such as the brain, liver, eyes, and reproductive system. While this disorder affects each person differently, many people encounter cataracts, learning disabilities, speech disorders, neurological/motor impairments, and growth delays. The disease is usually diagnosed by newborn screening; in almost all cases the disease would be fatal within 10-14 days of life if not diagnosed. The only current treatment is following a galactose-free diet, which restricts adding galactose to the body. It does not, however, combat the galactose that the body creates on its own, which is ten times more than the amount in a galactose-free diet, and causes further damage to the internal organs. This can cause for difficult life circumstances as they grow into adulthood (i.e., tremors, seizures, inability to live independently, speech issues, infertility, etc.). About the Galactosemia Foundation Galactosemia Foundation Inc. is a non-profit charitable organization that advocates for people with galactosemia and their families. Founded in November 1985, Galactosemia Foundation helps provide families information about Galactosemia and facilitates networking between families, clinicians and researchers. Our mission and objectives include education, support and advocacy for those affected by Galactosemia. For more information about the Galactosemia Foundation and its board of directors, please visit galactosemia.org, and follow the Galactosemia Foundation on Facebook and LinkedIn. SOURCE Galactosemia Foundation

Days after forging a $1.1 billion agreement with Selecta Biosciences to develop gene therapies for lysosomal storage disorders, Takeda Pharmaceutical entered into a licensing pact with Poseida Therapeutics for its Cas-CLOVER nanoparticle delivery technology and other genetic engineering platforms. The deal is worth up to $3.6 billion. Takeda intends to use Poseida’s proprietary technology to research and develop up to eight gene therapies. According to the announcement, the collaboration will focus on the development of non-viral in vivo gene therapy programs, including Poseida's Hemophilia A program. The partnership will initially focus on developing six in vivo gene therapy programs that harness Poseida's novel technology platforms. Takeda can also add two additional programs to the collaboration and is bound to grant funding for all collaboration program R&D costs. Madhu Natarajan, head of Takeda’s Rare Diseases Drug Discovery Unit, explained that Poseida’s differentiated platform technologies “show great promise in developing non-viral in vivo gene therapies.” The partnership also reinforces Takeda’s commitment to developing next-generation gene therapies for patients with rare genetic and hematologic diseases. Under terms of the deal, Takeda paid San Diego-based Poseida $45 million upfront. When milestones are factored in for all eight programs, the partnership could be worth up to $3.6 billion. Poseida will lead the research activities through candidate selection. Following that, Takeda will assume responsibility for further development and commercialization. For Takeda, this follows the Selecta partnership that aims to leverage that company’s ImmTOR platform that could potentially allow for re-dosing of gene therapies. The platform is intended to lessen unwanted immune responses, allowing for multiple dosing and longer responses. Takeda wasn’t the only company to expand gene therapy programs. Spark Therapeutics, a Roche subsidiary, entered into a licensing agreement with CombiGene AB for that company’s CG01 project. CombiGene’s CG01 project is an investigational gene therapy that aims to treat drug resistant focal epilepsy. CG01 is in a late preclinical stage but could potentially treat a large patient population. Federico Mingozzi, chief scientific officer at Spark Therapeutics, noted that a population of epilepsy patients "are in need of new therapeutic options" as they do not respond to current anti-seizure therapies. The Philadelphia-based company, which successfully developed a gene therapy for a rare form of blindness, intends to turn its expertise "in gene therapy to address unmet needs for people living with drug-resistant focal epilepsy." Jan Nilsson, chief executive officer of CombiGene, affirmed that CG01 has continued to show strength throughout its preclinical development. He also showed confidence that Spark is the perfect partner to take CG01 into clinical development and potential commercialization. “CombiGene and Spark have had a productive ongoing dialogue during the latter parts of CG01’s preclinical development, and the entire CombiGene team have come to know Spark as a visionary and patient-focused organization with the strength, know-how, and experience to exploit the full potential of CG01. We look forward to advancing this potentially transformative therapy together with Spark for the benefit of a patient group in need of better treatments,” Nilsson said in a statement. Financial terms of the agreement were not disclosed. Also, California-based BridgeBio Pharma announced plans for its second annual R&D Day that will showcase some of the company’s gene therapy programs, as well as its KRAS inhibitors for cancer. Gene therapy programs that will be highlighted at the R&D Day include BBP-818, a new adeno-associated virus (AAV) gene therapy program for classic galactosemia (severe GALT deficiency). Classic galactosemia is caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). BBP-818 is designed to enable the GALT enzyme production and enable the body's natural ability to metabolize galactose. Preclinical studies in a mouse model of classic galactosemia showed that BBP-818 restored up to 72% of wild-type levels of GALT enzyme in the brain following a single dose. In addition to its GALT program, BridgeBio is advancing gene therapy candidates for Canavan disease and congenital adrenal hyperplasia (CAH). The company also has a preclinical program for TMC1 hearing loss. BridgeBio will also announce preclinical gene therapy programs targeting tuberous sclerosis, cystinuria and a genetic dilated cardiomyopathy.