2022年2月4日

圣地亚哥，加利福尼亚州/美通社/——美国aicardi - gouti综合征协会(AGSAA)、LunaPBC和遗传联盟(Genetic Alliance)今天宣布了一项计划，成立一个以患者为主导的药物发现社区，研究一种罕见的神经发育障碍aicardi - gouti综合征(AGS)的病因学，并支持这种毁灭性疾病的治疗方法的开发。该项目是与百健(Biogen, Inc.)合作推出的，是百健与Luna和Genetic Alliance的第二次合作。该项目将让患者及其家属、患者维权人士和制药合作伙伴参与进来，创建一个患者驱动的试验设计——患者及其父母作为他们数据的管理者，目标是在药物发现过程中整合最佳临床和行为特征以及最理想的试验终点。Luna专有的社区驱动创新技术将使家庭和研究人员在他们的关键优先事项和需求上保持一致。基因联盟总裁兼首席执行官莎伦·特里说:“这些父母的热情推动了对这种疾病的研究，这是前所未有的。”“基因联盟很高兴能支持这些家庭。我们与Luna的合作是我们在许多其他行业中看到的那种范式转变。人们真正处于中心，发号施令。”AGS主要影响婴幼儿发育中的大脑和免疫系统，最常导致严重的发育迟缓、终身身体损伤和持续的神经系统变化。大多数患有AGS的新生儿在出生时没有表现出任何体征或症状，但在生命的头两年内，通常在几个月的正常发育和健康之后，会出现严重的脑功能障碍。 In AGS, the body's immune system turns on itself in a destructive way, targeting myelin, or white matter, in the brain and significantly impacting the nervous system. Additionally, immune dysfunction associated with AGS can affect many other organs of the body, sometimes in a life-threatening manner. This can include the lungs, the liver, the heart, the skin, blood cells, and the kidneys. Because the signs and symptoms of the disorder are similar to those of a congenital viral infection, AGS is extremely difficult to diagnose. Although rare, increasing awareness of AGS has revealed higher prevalence than previously ascertained. In order to manage severe progression and improve quality of life for affected individuals and their families, both early identification and timely access to emerging treatments are essential interventions. The program gives the AGS community the power to shape clinical studies that have the potential to answer their needs more quickly and efficiently. This framework, constructed from deep dives into AGS's digital world and real-world interviews with parents and patients, helps guide researchers toward the most accurate observations and endpoints that will be built into the study design to increase participant engagement and retention, to ensure interventions meet the goals and needs of patients, to capture real-world and patient-reported insights, and to facilitate comprehensive, longitudinal study. "This partnership represents a key element of our 'human-first' drug discovery approach at Biogen," said Sally John, Head of Translational Biology at Biogen. "We have learned how important it is to engage patients early in the process. The program will provide a deeper understanding of the natural history of the disease and insight into the families' lived experiences to help enable discovery of novel medicines and clinical research that best meet the needs of patients." The framework also enables children and their parents to participate in studies from the comfort and safety of their homes, thereby reducing the hardship on families, increasing participation, and expediting research. "This partnership represents an incredible opportunity to not only document and validate the lived experiences of families grappling with Aicardi-Goutières syndrome, but actually use these hard-won insights to shape the future of research and treatment options" said Devon Cordova, vice president of the AGSAA. "With committed community engagement and thoughtful stewardship of our data, we will finally have what we need to tell our story and begin to write a different ending." To learn more and determine eligibility to participate, visit https://www.agsamericas.org/ags-patient-registry to join and help accelerate discovery. Source: LunaDNA