CYP2U1

2024年3月20日，在美国德克萨斯州休斯顿，一对澳大利亚夫妇面对14个月大的女儿Tallulah因超罕见神经性疾病遗传性痉挛性截瘫56型（SPG56）而生命垂危的困境，毅然决然地变卖了所有家产，只为全力救治女儿。他们的勇敢之举推动了澳大利亚非营利组织Genetic Cures for Kids（GC4K）的成立，并引发了一场全球性的运动。如今，GC4k宣布与全球领先的基因治疗CRO&CTDMO派真生物以及威尔康奈尔医学院Belfer基因治疗中心合作，有望为超罕见遗传病患者带来全新的希望：一种量身定制、患者可及的基因治疗解决方案。 一个小群体挑战巨大的医疗难题 SPG56是一种进行性、退行性疾病，多发病于儿童及青少年。像Tallulah这样五岁的孩子，随着疾病的进展，会逐渐丧失运动和认知能力。对SPG56的诊断困难重重，这不仅因为基因检测的不足，还因为该疾病极为罕见。全球范围内，每百万人中确诊者少于1人，导致大多数家庭陷入黑暗，几乎没有治疗的选择。  “GC4K”就是这样诞生于一个家庭的绝望与决心，旨在为目前尚无治愈方法的7000多种遗传性疾病打造一个可复制的治疗模式。但这一努力的意义远不止于此，通过这样的努力，将个人的抗争转变为全球性的行动蓝图，使治疗不再是高不可攀的奢侈品，而是每个人都能触及的希望。 联合全球专业的力量 威尔康奈尔医学院Belfer基因治疗中心： 该设施专门调整了其腺相关病毒（AAV）生产能力，以服务由患者发起的小型项目。 派真生物： 派真深耕基因治疗领域服务平台逾十载,始终坚持做一家纯粹的CRO&CTDMO,以深厚的技术积累、卓越的运营和高品质的交付,为全球客户提供从早期概念验证、成药性评估到IIT、IND及BLA的一站式CMC服务，以加速创新基因药上市并使老百姓用得起基因治疗。公司提供全方位服务，涵盖质粒、病毒载体和mRNA生产等，支持项目从研究到商业化。在亲眼见到Tallulah并目睹威尔康奈尔医学院的研究对人类的积极影响后，派真承诺极力控制成本并加快临床级基因治疗的开发进程。 威尔康奈尔医学院的遗传医学研究教授Stephen M. Kaminsky表示“我们在Belfer基因治疗中心的工作，是出于让所有患者，特别是像SPG56这样的罕见疾病患者，都能获得基因治疗。我和同事Dolan Sondhi教授一起，凭借长期支持治疗开发项目的经验，以及我们在AAV载体方面的专业知识，正在为Tallulah提供可能改变其生活的治疗。这一努力也为解决其他数千种罕见遗传疾病树立了榜样。” 派真生物的首席战略官Dr. Xin Swanson表示“我们与GC4K和威尔康奈尔医学院Belfer基因治疗中心的合作，彰显了同情心与科学卓越结合的力量。我们不仅利用专业知识生产质粒和AAV载体，还要重塑基因治疗的未来格局——正如我们所秉承的使命‘让老百姓用得起基因治疗’，并将其深深扎根于人文关怀中 。” 凝聚更多的力量，为罕见病群体发声 制药巨头往往将目光投向庞大的患者群体和高回报的疗法。然而，这个项目却证明，即使是超罕见疾病也能赢得资金投入、突破性创新和国际社会的关注。合作方借助顶级的科学力量，为少数患儿提供量身定制的解决方案——这一模式有望复制推广至数千种目前因“太罕见”而鲜有大量投资的疾病。 GC4K的创始人、Tallulah Moon的母亲Golden Whitrod表示“作为SPG56患儿的母亲，我逐渐意识到，我们这样的家庭面临的挑战，绝非仅仅是与疾病抗争——我们更是在为我们的孩子应得的关注、资源和紧迫救治而奋斗。除非政府真正重视并投资个性化医疗这一充满潜力且极具价值的领域，像我们这样的家庭基金才会将持续引领潮流。但我们势单力薄，难以独当一面。所幸有像派真生物和威尔康奈尔医学院这样的公司和机构的慷慨和慈善义举，这提示我们同情心和创新精神足以一次又一次地改变生命，进而改变整个世界。” Genetic Cures for Kids, Tallulah Whitrod and father Chris Whitrod 此外，这一努力还充分彰显了基因治疗的变革潜力。联盟聚焦SPG56，为攻克目前尚无治愈方案的数千种遗传性疾病树立了标杆，为全球医疗变革绘制了一幅宏伟蓝图。 AAV9：化敌为友，病毒变“救星” 在一项颇具创意的医学尝试中，研究团队巧妙地利用无害病毒AAV9，将其打造成“益友”，直接将健康基因精准送入患者体内细胞。换言之，他们借助重新设计的病毒来对抗疾病。这一转变令人惊叹不已：昔日的“病原”如今化作治愈的“先锋”，为孩子们重燃了重获健康未来的希望之光。 携手同行，共担使命：每一份力量都至关重要 这个故事起源于两位父母对“无药可治”这一答案的坚决拒绝。如今，它已汇聚成一个全球性的网络，涵盖家人、研究人员、临床医生和捐赠者，大家心怀同一目标：带来治愈，而非空谈借口。 让我们共同参与这一具有里程碑意义的行动。访问www.ourmoonsmission.org，深入了解详情、踊跃贡献心力，并见证团结一心的全球社区如何将改变生命的疗法从实验室成功送达最急需的孩子们手中。 新闻来源：A Global Alliance to Save Lives: How Two Parents and PackGene Are Redefining What's Possible in Gene Therapy with Help from Weill Cornell Medicine 关于派真生物

Atlanta, GA — March 2, 2023 Odylia Therapeutics, a nonprofit biotechnology company, announced a partnership with JEM Therapeutics, a public benefit corporation whose mission is to discover cures for rare diseases by advancing the field of gene and cell therapy. Through this partnership, Odylia will accelerate development timelines for the current programs in the JEM portfolio by developing and implementing the scientific strategy. JEM Therapeutics currently focuses on developing treatments for spastic paraplegia 49 (SPG49), a TECPR2 Related Disease, and other pediatric neurodegenerative diseases with a high unmet need. Michael Kaplan, MD, Chief Executive Officer at JEM Therapeutics says “JEM Therapeutics is dedicated to helping those who truly need it the most. Our goal is to accelerate progress as quickly as possible so we sought a partner who had the depth of expertise to provide guidance on scientific strategy, but who could also give us insights into the financial and operational aspects of our company’s growth. But what really stood out about Odylia was their accessibility and personal touch. They are as committed as we are to rare disease patients and that’s a quality that we highly value and is critical to our success. We look forward to collaborating with Odylia as JEM continues to expand its business objectives to further transform the lives of those affected by neurodegenerative diseases around the world.” Ashley Winslow, PhD, President and Chief Scientific Officer at Odylia Therapeutics said, “We are excited to be working with JEM Therapeutics to bring transformative medicines to the TECPR2 community. Given Odylia’s expertise in gene therapies and rare disease, we believe we can increase the likelihood of success for JEM’s portfolio and accelerate timelines to the clinic, starting with TECPR2.“ — For Odylia Therapeutics media inquiries, please contact: Ellynn Szoke, Managing Director eszoke@tieconsulting.us 973-761-4403 For JEM Therapeutics media inquiries, please contact: partnerships@jemrx.com 561-462-1809 About TECPR2 and SPG49 Loss-of-function mutations in the TECPR2 gene cause spastic paraplegia 49 (SPG49). TECPR2 encodes a protein implicated in the autophagy pathway which is critical for the development and function of the central nervous system. Children with SPG49 are often diagnosed with symptoms including global developmental delay, intellectual disability, central apnea, muscular hypotonia, and recurrent respiratory infections. There is currently no FDA approved treatment for this disease. To learn more, please visit About JEM Therapeutics JEM Therapeutics is a global biopharmaceutical company, founded by two fathers of children affected by TECPR2 neurodegenerative disease, focused on the discovery and development of novel, potentially curative therapeutics for neurodegenerative diseases. The company has built a diverse portfolio of therapeutic candidates by revolutionizing the traditional model through unparalleled collaborations with industry leaders, doctors, scientists, academia, and patient organizations worldwide. This commitment to serious rare and orphan disease has led JEM to new discoveries and approaches in the field of genetic medicine that aim to enable individuals to live longer, free of debilitating disease. For additional information about JEM Therapeutics, please contact partnerships@jemrx.com or visit About Odylia Therapeutics Odylia is a nonprofit biotech focused on bringing life-altering and lifesaving treatments to those with rare diseases. We have expertise in both preclinical and clinical drug development for rare diseases. Our vision is to change how drugs are developed for rare diseases by focusing on the science and patient needs, rather than the commercial potential. We partner with the patient communities, researchers, clinicians, and financial donors to bring promising therapeutics to clinical trials. In addition to our gene therapy development pipeline, we partner with rare disease patient groups, early-stage gene therapy companies, and academic researchers and tailor our work to meet the needs of each group depending upon the stage of development and the level of support needed through our Brydge Solutions program. Patient groups, companies, and researchers interested in learning more about Odylia Therapeutics’ services should contact us at info@odylia.org. For additional information, visit , and follow us on Twitter and LinkedIn. About Brydge Solutions Odylia partners with rare disease communities to deliver a new generation of innovative therapies for rare diseases through the Brydge Solutions program. By providing patient advocacy organizations, industry, and academic partners with expertise in rare disease research, drug development, and program management, Odylia empowers partners and provides the resources to help groups maintain momentum and control over their interests. These partnerships range in scope from deliverable-based landscape analyses, long-term, ongoing scientific guidance, and portfolio management, as well as operational and financial insights to accelerate growth.