RDH12

2024年9月20日，北京协和医院牵头研发的基因治疗药物PUMCH-E101注射液临床研究顺利启动，评估玻璃体腔注射给药对RDH12基因变异相关的视网膜疾病患者的安全性、耐受性和初步有效性。这是全球首个针对RDH12相关视网膜病变的临床研究。因诺惟康为PUMCH-E101提供了载体技术。 本研究目前已启动受试者筛选，如您符合以下主要条件，将有可能入选该研究： 1) 8-45 岁，性别不限； 2) 基因检测确认 RDH12 纯合突变或复合杂合突变，且不携带其它遗传性眼病致病或可疑致病变异； 3) 相关实验室检查符合入选要求。 如您有意向参加该项研究，请您与以下研究人联系。 联系人：周博士13787538572,高老师15101507867 邮箱：PUMCHIRD@126.com RDH12基因是导致我国严重视网膜退行性疾病的重要基因。睢瑞芳教授团队曾报道了RDH12基因突变相关视网膜病变的基因突变谱和临床表现，是世界范围内样本量最大的研究，但是目前国内外均没有针对该病的有效治疗手段，“等待失明”似乎已成为患者可预见的命运。 PUMCH-E101是由北京协和医院自主研发的基因治疗药物，以因诺惟康自主研发的AAV.IVT18作为载体，携带经过密码子优化的RDH12编码序列。临床前研究显示本药物可通过单次玻璃体腔注射，将密码子优化的hRDH12基因导入视网膜光感受器细胞，使其表达完整的且高活性的RDH12蛋白，参与视觉循环通路，挽救由于RDH12基因变异所导致的视网膜功能异常。 睢瑞芳教授带领的北京协和医院眼科团队在眼科遗传病领域深耕20余年，建立了完整的眼遗传病临床诊断、基因诊断、自然病程观察、终点指标评估以及基因治疗临床试验规范，“严谨、创新及人文关怀”贯穿于团队的临床及研究。目前已开展多项遗传眼病的临床研究/试验。 北京因诺惟康医药科技有限公司（InnoVec Biotherapeutics Inc.）是一家位于北京海淀的国家高新技术企业。因诺惟康团队来自清华，北大，协和，Regeneron和Lonza等世界顶级高校、医院和药物研发机构。因诺惟康致力于开发适用于人体的基因治疗递送工具，解决递送工具开发中从动物到人转化困难的问题，目标找到所有组织和器官的基因递送工具。目前基于自研载体的管线在临床前显示出best in class的潜力。2024年伊始这些产品会陆续推进到IIT和IND。

Uni-Rare Study will improve clinical understanding of more IRDs and boost development of potential therapies. COLUMBIA, Md., Nov. 10, 2022 /PRNewswire/ -- The Foundation Fighting Blindness, the world's leading organization committed to finding treatments and cures for blinding retinal diseases, is committing at least $8.6 million for its Uni-Rare Study, a new natural history study for approximately 1,500 people with one of more than 300 rare genes associated with inherited retinal diseases (IRDs) including: retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, and a broad range of other conditions. The study, due to begin recruitment in December, will help clinical researchers gain a better understanding of the course of retinal degeneration and vision loss for people with mutated genes that have not been well-characterized in the clinic. The study will also help the IRD research and therapeutic development community: 1) identify more people for clinical trials of therapies, 2) inform design of clinical trials, and 3) identify therapeutic targets for more people. "A majority of the 300 genes linked to inherited retinal diseases have not been well characterized in the clinic. That is, we do not have a good understanding of retinal degeneration and disease progression for those affected by these mutated genes," says Todd Durham, PhD, senior vice president, clinical development, at the Foundation Fighting Blindness. "We are excited to launch a highly inclusive study to benefit a large segment of the population affected by IRDs, which are so genetically diverse." "We are at a promising juncture in the clinical development of genetic therapies for inherited retinal diseases," says José-Alain Sahel, MD , distinguished professor and chairman of the department of ophthalmology at the University of Pittsburgh School of Medicine and Uni-Rare Study chair. "With dozens of emerging treatments in, or moving toward, clinical trials, the Uni-Rare Study will be invaluable in defining and validating outcome measures for clinical trials and establishing the infrastructure for multicenter studies. The Foundation Fighting Blindness, with its strong presence and relationships in the global IRD research community, is the ideal partner to lead the effort." The two-part Uni-Rare Study will be conducted by the Foundation's Clinical Consortium, a global, 40-site network of clinical research centers equipped with the experts and resources needed to launch IRD clinical trials and natural history studies. The Jaeb Center for Health Research will serve as the coordinating center. In the first part of the study, all participants will have an initial evaluation to collect their genetic data and clinical measures. When the study is initiated, study participants whose IRD is caused by variants in the RDH12 and MYO7A genes may qualify for the second part of the study, which involves collecting clinical measures for an additional four years. Additional gene cohorts for this part of the study are expected to be added in the future. The Foundation has received support for the study from families affected by Usher syndrome type 1B, Save Sight Now, Opus Genetics, Atsena Therapeutics, and Cove Therapeutics and is seeking additional support to add further gene cohorts to the second part of the study. "Opus is pleased to be an early supporter of this first-of-its-kind in ophthalmology initiative to understand natural histories around rare diseases of the retina in order to accelerate research and therapeutic development for these blinding conditions," said Jennifer Hunt, chief development officer at Opus Genetics. "Atsena Therapeutics is pleased to support the Uni-Rare natural history study and the inherited retinal disease community as we continue advancing the preclinical development of our dual AAV vector-based gene therapy to prevent blindness from USH1B," said Kenji Fujita, MD, chief medical officer at Atsena Therapeutics. "We are proud to sponsor such a robust interrogation of natural history that will be used to inform future clinical development plans and improve patient outcomes; these data will be fundamental for our understanding of several diseases and will serve to accelerate the development of Cove's non-viral gene therapies," said Niren Shah, PharmD, MBA, CEO and co-founder of Cove Therapeutics. IRD patients and physicians with IRD patients can get more information at clinicaltrials.gov. Patients with IRDs caused by mutations in the following genes are not eligible for the study: ABCA4, CEP290, CHM, CNGA3, CNGB3, EYS, GUCY2D, PCDH15, PROM1, RHO, RPE65, RPGR, USH2A. These genes are or have been part of other natural history studies or clinical trials. About the Foundation Fighting Blindness Established in 1971, the Foundation Fighting Blindness is the world's leading private funding source for retinal degenerative disease research. The Foundation has raised more than $891 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information. About Opus Genetics Opus Genetics is a groundbreaking gene therapy company for inherited retinal diseases with a unique model and purpose. Backed by Foundation Fighting Blindness's venture arm, the RD Fund, Opus combines unparalleled insight and commitment to patient need with wholly owned programs in numerous orphan retinal diseases. Its AAV-based gene therapy portfolio tackles some of the most neglected forms of inherited blindness while creating novel orphan manufacturing scale and efficiencies. Based in Research Triangle Park, N.C., the company leverages knowledge of the best science and the expertise of pioneers in ocular gene therapy to transparently drive transformative treatments to patients. For more information, visit opusgenetics.com. About Atsena Therapeutics Atsena Therapeutics is a clinical-stage gene therapy company developing novel treatments for inherited forms of blindness. The company's ongoing Phase I/II clinical trial is evaluating a potential therapy for a form of LCA, one of the most common causes of blindness in children. Its additional pipeline of leading preclinical assets is powered by an adeno-associated virus (AAV) technology platform tailored to overcome significant hurdles presented by inherited retinal disease, and its unique approach is guided by the specific needs of each patient condition to optimize treatment. Founded by ocular gene therapy pioneers Dr. Shannon Boye and Sanford Boye of the University of Florida, Atsena is based in North Carolina's Research Triangle, an environment rich in gene therapy expertise. For more information, please visit atsenatx.com. About Cove Therapeutics Cove Therapeutics is a privately held biotechnology company focused on developing non-viral, non-lipid, nanoparticle gene therapies for orphan and chronic prevalent indications. The Company utilizes a nanoparticle technology that overcomes limitations in gene therapy by enabling cell-specific tropism, scalable manufacturing, redosing, and packaging of large genes while maintaining a favorable safety profile. Together with these nanoparticles, Cove's lead franchise for ophthalmic conditions leverages a novel outpatient suprachoroidal device that enables broad distribution of therapeutics. Learn more about the Company through direct contact — Stephen Jasper, Gilmartin Group, [email protected], 858-525-2047. Media Contact: Chris Adams Vice President, Marketing & Communications [email protected] 410-423-0585 SOURCE Foundation Fighting Blindness

The startup’s initial focus will be on rare blindness conditions affecting pediatric patients. With $19 million in seed funding led by the Retinal Degeneration Fund, Opus Genetics launched with a mission to develop gene therapies for rare forms of blindness driven by genetic mutations. The startup’s initial focus will be on rare blindness conditions affecting pediatric patients. This is the first company that was internally conceived and spun out by the Retinal Degeneration Fund, the venture arm of the Foundation Fighting Blindness. The new company was formed to advance the work of Dr. Jean Bennett, the F.M. Kirby Emeritus Professor of Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania , Junwei Sun, chief administrator of Penn’s Center for Advanced Retinal Ocular Therapeutics, and Dr. Eric Pierce, the William F. Chatlos Professor of Ophthalmology at Harvard Medical School and Massachusetts Eye. All three researchers are scientific founders for Opus and both Bennett and Sun are founding members of Spark Therapeutics , which won regulatory approval for Luxturna , a gene therapy for a rare form of blindness. The lead programs for Opus Genetics, which is based in North Carolina, are aimed at developing therapeutics that will address mutations in genes that cause different forms of Leber congenital amaurosis (LCA), a group of rare inherited retinal diseases that typically present in infancy and are characterized by degeneration of photoreceptors, the cells in the retina that make vision possible. The lead asset is OPGx-001, which is designed to address mutations in the LCA5 gene. That gene encodes the lebercilin protein. Mutations in the LCA5 are among the most severe forms of LCA and impact approximately one in 1.7 million people. Opus expects to Investigational New Drug application for OPGx-001 program in early 2022 and enter the clinic in mid-2022. The startup’s second asset is OPGx-002. This treatment aims to restore protein expression and halting functional deterioration in patients who have retinal dystrophy caused by mutations in the retinal dehydrogenase (RDH12) gene (LCA13). These mutations affect one in 288,000 people. Preclinical data have suggested the potential of these approaches to restoring structure and function. Opus’ programs have been licensed from the University of Pennsylvania . Bennet, who has dedicated his career to the research and development of treatments for blinding diseases, said founding Opus will enable the progression of OPGx-001 and OPGx-002 for LCA treatment. The company’s launch will also provide a means to build a pipeline of additional treatments for genetically-driven forms of blindness. The launch of Opus comes one day after Swiss pharma giant Novartis acquired Arctos Medical to strengthen its gene therapy-based options to treat different forms of genetically related blindness. Arctos harnesses the power of optogenetics to restore vision to patients with progressive blindness. Ben Yerxa, chief executive officer of the Foundation and the RD Fund, and acting CEO of Opus said the startup is a “first-of-its-kind model for patient-focused therapeutic development.” “Opus is uniquely positioned to bring experts, resources and patients together to efficiently advance ocular gene therapies for small groups of patients that to date have been neglected,” Yerxa said in a statement. In addition to the RD Fund, the $19 million seed financing was supported by the Manning Family Foundation and Bios Partners.