Auburn University research and the heart-wrenching experience of an Opelika, Alabama, couple are providing hope to children facing the deadly genetic disease, GM1 gangliosidosis.
The optimistic outlook is seen in an adorable 10-year-old girl named Jojo, who became the first patient to receive a gene therapy treatment, called AXO-AAV-GM1, during a human clinical trial this summer at the National Institutes of Health in Maryland. Auburn's College of Veterinary Medicine and the University of Massachusetts Medical School developed the treatment that has moved from helping cats with GM1 to hopefully helping children.
"Jojo is doing well and has experienced no major complications," said Dr. Doug Martin, professor in the Department of Anatomy, Physiology and Pharmacology in Auburn's veterinary college and the Scott-Ritchey Research Center. "Seeing all of the effort come together to help patients who have no treatment options today gives us great hope."
Auburn scientists for several decades have researched treatments to improve and extend the lives of cats affected by GM1. Martin is leading Auburn's effort, which was started by his mentor, Professor Emeritus Henry Baker.
To move the treatment toward human medicine, Martin developed a partnership with UMass Medical School researchers Drs. Miguel Sena-Esteves and Heather Gray-Edwards, an Auburn alumna—and they have worked collaboratively for 15 years, combining animal and human medicine studies to cure rare diseases that affect both animals and humans. In December 2018, the gene therapy was licensed to Axovant Gene Therapies Ltd., a clinical-stage company developing innovative gene therapies.
"This treatment is extremely promising because it has worked well in GM1 mice and cats, and it is delivered by a single IV injection that takes less than an hour," Martin said. "We're hopeful that the treatment makes a real difference for patients and their families.
"The NIH is hoping to begin treating three or four more children in the next few months. As the trial progresses and more patients are treated, we'll have a good idea of whether the gene therapy helps children as much as it has helped the animals."
The NIH clinical trial is led by Dr. Cynthia Tifft, deputy clinical director at the National Human Genome Research Institute. "GM1 gangliosidosis is a devastating disease in young children, for which there are no currently approved treatment options. The development of a safe and effective gene therapy for these patients would be a welcome advancement in the field of pediatric lysosomal storage disorders affecting the brain," Tifft said.
For Auburn graduates Sara and Michael Heatherly of Opelika, whose son Porter was the first known case of GM1 in Alabama and died in 2016, the knowledge of a treatment is one of mixed emotions.
"We are excited to know there is hope for the future of children diagnosed with GM1," Michael Heatherly said. "We are thankful for everyone who has dedicated their time, resources and careers to move this treatment forward and to Axovant for bringing all of their work to life and making it a reality for GM1 patients.
"We understood early on the research would not help Porter, but we wanted to help spread the word of the research and the progress that was being made."
The Heatherlys gave Auburn researchers a reason to hope, and work harder for a cure. To honor the family, which held fundraisers for several years to support the research, the College of Veterinary Medicine's Scott-Ritchey Research Center incorporated Porter's likeness in a creative identity for the center.
SOURCE Auburn University
奥本大学的研究和阿拉巴马 Opelika 的心痛经历为面临致命基因疾病 GM1神经节苷脂病的儿童提供了希望。
这个乐观的前景出现在一个可爱的10岁女孩 Jojo 身上。 Jojo 今年夏天在马里兰州国立卫生研究院进行人体临床试验，成为第一个接受基因治疗的患者，名为 AXO-AAV-GM1。奥本兽医学院和马萨诸塞大学医学院开发了这种治疗方法，从帮助患有 GM1的猫到希望帮助儿童。
为了将治疗转向人类医学，马丁与 UMass 医学院的研究人员 Drs 建立了合作关系。Miguel Sena-Esteves 和 Heather Gray-Edwards 是 Auburn 的一名校友，他们合作工作了15年，结合动物和人类医学研究，治疗影响动物和人类的罕见疾病。2018年12月，该基因治疗获得开发创新基因治疗的临床阶段公司 Axovant 基因治疗有限公司的许可。
“这种治疗是非常有希望的，因为它在 GM1小鼠和猫身上效果良好，它是通过一个不到一个小时的静脉注射来完成的，” Martin 说。“我们希望这种治疗能给患者和他们的家人带来真正的改变。
NIH 临床试验由国家人类基因组研究所副临床主任 CynthiaTifft 博士领导。“ GM1神经节苷脂病是一种破坏性的疾病，在儿童，目前没有批准的治疗方案。在影响大脑的儿童溶酶体储存障碍领域，为这些患者开发安全有效的基因治疗将是一个可喜的进展。
奥本大学( Auburn )毕业生萨拉( Sara )和迈克尔•希瑟利( Michael Heathere )来自 Opelika ，后者的儿子波特( Porter )是阿拉巴马州首例已知的 GM1病例，并于2016年去世。
“我们很高兴知道有希望未来的儿童诊断 GM1，”迈克尔希思利说。“我们感谢所有致力于时间、资源和职业的人，他们将这种治疗方法推向前进，感谢 Axovant 将他们的所有工作带到生活中，使 GM1患者成为现实。