Charcot-Marie-Tooth Disease, Type 2C

SAN DIEGO--( BUSINESS WIRE )--Actio Biosciences, a biotechnology company leveraging a novel platform approach to genetics and precision medicine to develop new therapeutics that target shared underlying biology in both rare and common diseases, today announced the U.S. Food and Drug Administration (FDA) has granted both orphan drug designation (ODD) and rare pediatric disease designation (RPDD) for ABS-0871, a TRPV4 inhibitor, for the treatment of TRPV4+ Charcot-Marie-Tooth disease subtype 2C (CMT2C). “TRPV4 mutations cause CMT2C, a devastating disease that leads to debilitating and life-threatening symptoms, such as severe muscle weakness, vocal cord paresis and respiratory complications,” said David Goldstein, Ph.D., co-founder and CEO of Actio. “We are pleased to have received these designations from the FDA for ABS-0871 for CMT2C, a decision that underscores the recognition of the urgent need for new treatments for these patients.” “We are thrilled to celebrate our STAR Alliance Partner, Actio Biosciences, for receiving both orphan drug and rare pediatric disease designations from the FDA for ABS-0871 in CMT2C,” said Charcot-Marie-Tooth Association CEO Sue Bruhn, Ph.D. “The collaborative efforts showcased through our Patients as Partners platform were instrumental in reaching this milestone, demonstrating the power of uniting the CMT community with industry leaders. This significant progress is a testament to the strength and dedication of our community, who made this achievement possible.” The FDA grants orphan drug designation, also referred to as orphan status, to therapies intended for the treatment of rare diseases that affect fewer than 200,000 people in the U.S. This designation provides certain benefits, including tax credits for qualified clinical testing, waiver or partial payment of FDA application fees and seven years of market exclusivity, if approved. Separately, rare pediatric disease designations are granted for rare diseases that primarily affect children under 18 years old with recipients of this designation being awarded a priority review voucher, upon approval. The priority review voucher may be redeemed, transferred, or sold. About TRPV4 and ABS-0871 TRPV4 mutations cause two classes of rare autosomal dominant disorders: peripheral neuropathies including CMT2C, and skeletal dysplasias. Currently, there is no specific treatment available for TRPV4-mediated diseases. Actio’s lead small molecule program, ABS-0871, targets TRPV4 mutations and is advancing towards the clinic for the treatment of CMT2C and TRPV4 related bone diseases. Evaluation of this program in novel construct-valid preclinical TRPV4 rare disease models has demonstrated marked improvements in motor function and mobility, compared to untreated controls. About Actio Biosciences Actio Biosciences is leveraging advances in precision medicine to develop new therapeutics that target shared genetics in rare and common diseases—bringing meaningful medicines from one to many. Applying its expertise in genetics, drug discovery and data sciences, Actio seeks to identify programs where both biological and technical risk can be minimized to streamline the drug development process and bring forward exceptionally potent and precisely targeted therapeutics. Founded in October 2021, the San Diego-based company is led by leaders in genetics and drug development and backed by top healthcare investors. For more information, please visit ActioBiosciences.com.

近日，Actio Biosciences宣布完成5500万美元的A轮融资。此次融资由Canaan和DROIA Ventures领投，现有投资者Deerfield Management和EcoR1、以及新投资者Euclidean Capital也参与其中。 Actio Biosciences是一家生物技术公司，利用新颖的遗传学和精准医疗平台方法，开发针对罕见病和常见病的共同基础生物学的新疗法。Actio公司运用其在遗传学、药物发现和数据科学方面的专业知识，努力确定可最大限度降低生物和技术风险的项目，以简化药物开发流程，开发出药效卓越、靶向精准的治疗药物。该公司成立于2021年10月，总部位于美国圣地亚哥。 众所周知，单个基因的突变可导致罕见疾病，但人们对这些单个基因突变的功能以及如何调节这些基因以进行治疗干预却往往知之甚少。为了克服这一问题，更好地利用目前广泛的基因信息进行药物发现和开发，Actio公司利用其人类遗传学平台来确定相关的疾病靶点，了解它们在疾病中的功能，并开发能够调节这些靶点的药物。Actio公司的平台包括一个庞大的专有靶标数据库（名为“罕见病靶标图谱”），以及在生物信息学、生物学和化学方面的专业知识。 根据其官网信息，Actio公司的药物开发策略主要分为以下几个部分： 确定疾病靶标的优先级：通过评估疾病流行率、病理机制是否明确、靶点可成药性，为医疗需求未竟的罕见单基因疾病选择靶标。 突变体表征：通过深入探讨致病突变的性质并开展综合功能分析，研究人员能够准确进行疾病相关检测，从而深化对病理机制的理解，明确靶点调控的方向，为疾病的治疗和管理提供坚实的支持。 临床前研究：通过构建有效的临床前模型，旨在揭示和建立疾病间的深层表型联系。通过这样的方法，研究人员能够鉴定出一系列可靠的生物标志物，这不仅为检验各种治疗假设提供科学依据，还可能促成疾病的逆转，从而为未来的临床治疗策略提供有力的支撑。 开展罕见病临床试验：主要包括用于定义研究终点和生物标志物的自然史研究，以及针对去风险（de-risked）同质性疾病的首次干预性试验。 适应症扩展：借鉴从单基因疾病治疗中获取的经验，扩大可治疗的患者群体。 Actio公司的产品管线主要包括一个针对TRPV4的项目，TRPV4是由该公司平台确定的高价值离子通道靶点。Actio公司计划首先评估该项目，以治疗由TRPV4突变引起的罕见疾病，包括以重症肌无力、声带麻痹和呼吸系统并发症为特征的沙尔科-马里-图思病（Charcot-Marie-Tooth disease）2C型，以及严重骨病（如变形性骨发育不良）。在TRPV4相关罕见病临床前模型中对该项目进行的评估结果表明，与未经治疗的对照组相比，治疗组的运动功能、活动能力和骨骼形态都有明显改善，寿命也有所延长。 Actio公司由人类遗传学专家David Goldstein博士和药物开发先驱John McHutchison博士共同创立，其中，Goldstein博士同时还担任了公司的首席执行官一职。Goldstein博士在遗传学领域拥有深厚的科研经验，他发现了30多种致病基因和综合征。此外，他还曾为包括阿斯利康在内的多家医药公司担任顾问，并参与创办了Praxis Precision Medicines公司。 内容来源于网络，如有侵权，请联系删除。

Deploying a suite of proprietary tools and deep genetics expertise to develop therapeutics against targets shared between rare and more prevalent diseases Lead small molecule program targeting TRPV4 mutations advancing toward clinic for treatment of Charcot-Marie-Tooth disease type 2C and other serious bone diseases Innovative partnership with The Jackson Laboratory to develop and implement new transgenic models of rare disease pathways Investor syndicate comprised of leading healthcare investors, including Canaan, Deerfield Management, DROIA Ventures, EcoR1 and Euclidean Capital SAN DIEGO--(BUSINESS WIRE)-- Actio Biosciences, a biotechnology company leveraging a novel platform approach to genetics and precision medicine to develop new therapeutics that target shared underlying biology in both rare and common diseases, today announced the completion of a $55 million Series A financing. The financing was led by Canaan and DROIA Ventures, with participation from existing investors Deerfield Management and EcoR1, as well as new investor Euclidean Capital. “Defining a high-impact drug target for a common disease with a heterogenous population has a very low probability of success and has long been a major challenge for drug discovery,” said David Goldstein, Ph.D., co-founder and CEO of Actio. “By starting with a focus on rare diseases, we gain invaluable insights that not only define new therapeutic benefits in high-need indications but also de-risk and guide therapeutic expansion to more common conditions, benefiting even more patients. We are thrilled to have the backing of this esteemed group of investors, along with our world-class team, whose collective support will enable the advancement of our programs to bring life-changing medicines to those that need them most.” Nina Kjellson, board member and general partner at Canaan, commented, “In today’s financing environment, investors can be quite selective where to place our bets. At Canaan, we had a thesis in precision genetics, and Actio stood out for scientific excellence, a seasoned team and very impressive pipeline progress in the short time since inception. We are passionate about investing in teams that have deep, relevant expertise, yet aren’t afraid to tackle the hard problems from new angles and with multidisciplinary approaches.” A Precision Approach to Medicine – From One to Many While it is well known that a single gene can lead to rare disease, the function of mutations in those single genes and how they might be modulated for therapeutic intervention is often not well understood. To overcome this and better utilize the breadth of genetic information now available for drug discovery and development, Actio is leveraging its human genetics platform to identify relevant disease targets, understand their function in disease and create medicines that modulate them. The company’s platform comprises a vast proprietary target database, called the Rare Disease Target Atlas, and unparalleled expertise in bioinformatics, biology and chemistry. Actio will initially focus on identifying targets and advancing programs for rare disease indications and plans to leverage insights throughout the development process to inform potential relevance of those targets in more common diseases. The company has established a partnership with the Rare Disease Translational Center at The Jackson Laboratory (JAX), a leading nonprofit biomedical research institution, dedicated to understanding the molecular underpinning of rare diseases and their treatments. Actio is partnering with JAX to evaluate targets and phenotypes of interest in high-quality genetically engineered mouse models at scale, enabling a high level of confidence in the outcomes observed. Actio is also collaborating with prominent academic centers to provide further validation of the role of certain genes in disease, as well as insights into disease pathology to better inform the design of preclinical studies, rare patient natural history studies and future clinical trials. Lead Program Targeting TRPV4 Advancing Toward the Clinic Actio’s pipeline is led by a program targeting TRPV4, an ion channel target identified as high-value through the company’s platform. Actio plans to initially evaluate it for the treatment of rare diseases caused by TRPV4 mutations, including Charcot-Marie-Tooth disease type 2C (CMT2C), characterized by severe muscle weakness, vocal cord paresis and respiratory complications, as well as serious bone diseases, such as metatropic dysplasia. Evaluation of this program in novel construct-valid preclinical TRPV4 rare disease models has demonstrated marked improvements in motor function, mobility and bone morphology, as well as increased lifespan compared to untreated controls. “Since our founding, we’ve built a proprietary platform designed to de-risk targets of interest and establish biological connections between rare and common disease states that is unlike anything else in the industry today,” said John McHutchison, AO, M.D., co-founder and board member of Actio. “That work has led to the prioritization of several high-value targets, including our lead TRPV4, program for the treatment of CMT2C and other bone diseases with high unmet need. Beyond this program, we are working expeditiously to expand our pipeline and have identified two additional programs that we plan to evaluate for genetic epilepsies and genetic skin conditions.” Distinguished Founders and Leadership Actio was founded by human genetics expert David Goldstein, Ph.D., who serves as the company’s CEO and a board member, and pioneering drug developer John McHutchison, AO, M.D., who also serves as a board member. The full Actio leadership team and board include the following: Leadership Team David Goldstein, Ph.D., co-founder and CEO David Breckenridge, Ph.D., chief scientific officer John Link, Ph.D., senior advisor, drug discovery Sunil Sahdeo, Ph.D., vice president, biology Nick Stock, Ph.D., senior vice president, chemistry Ali Torkamani, Ph.D., vice president, bioinformatics and genetics Anne Sandan, CPA, vice president, human resources and finance operations Board of Directors George Golumbeski, Ph.D., board chairman and partner, DROIA Ventures Jason Fuller, Ph.D., board member and partner, Deerfield Management David Goldstein, Ph.D., board member and CEO, Actio Nina Kjellson, board member and general partner, Canaan John McHutchison, AO, M.D., board member and co-founder, Actio Alex Tkachenko, Ph.D., board member and executive in residence, EcoR1 “The Actio team is comprised of proven geneticists and drug hunters that have both the expertise and drive to advance a company rooted in the science of precision medicine, with a big-picture vision of translating that science into medicines that could ultimately address the most common diseases,” said Dr. Golumbeski, board chairman and partner at DROIA Ventures. “DROIA is honored to partner with this team to advance a platform and pipeline that could change the trajectory of how we leverage the complexities of biology and human genetics to create promising new therapies.” About Actio Biosciences Actio Biosciences is leveraging advances in precision medicine to develop new therapeutics that target shared genetics in rare and common diseases—bringing meaningful medicines from one to many. Applying its expertise in genetics, drug discovery and data sciences, Actio seeks to identify programs where both biological and technical risk can be minimized to streamline the drug development process and bring forward exceptionally potent and precisely targeted therapeutics. Founded in October 2021, the San Diego-based company is led by leaders in genetics and drug development and backed by top healthcare investors. For more information, please visit ActioBiosciences.com. View source version on businesswire.com: Contacts Katie Engleman, 1AB katie@1abmedia.com Source: Actio Biosciences View this news release online at: