Telethon Institute of Genetics & Medicine

MILAN, Italy, Sept. 16, 2024 (GLOBE NEWSWIRE) -- AAVantgarde Bio (AAVantgarde), an Italy-based global biotechnology company, announced that the first subject has been dosed in the LUCE-1 trial, a Phase 1/2 open label clinical trial to assess safety and tolerability of AAVB-081, using the company’s proprietary dual hybrid gene therapy platform to deliver MYO7A protein in subjects with retinitis pigmentosa related to Usher Syndrome Type 1B (USH1B). This dual-AAV technology for large gene delivery comes from the research of Prof. Alberto Auricchio at TIGEM, an international research institute based in Naples that is owned and managed by the Telethon Foundation. AAVantgarde is a spin-off of TIGEM, and has an exclusive license for the AAV-dual technology for inherited retinal diseases. The first subretinal gene therapy procedure in the LUCE-1 study was supervised by Prof. Francesca Simonelli, Head of the Ophthalmology Unit at the University Hospital of Campania “Luigi Vanvitelli” (Naples). This hospital is one of 3 clinical sites for the Phase 1/2 trial. Dr. Simonelli is global Chief Investigator at the University Hospital of Campania “Luigi Vanvitelli” that is the lead dosing site for the LUCE-1 study. “I am delighted to be involved as Principal Investigator in this first-in-human Phase 1/2 clinical study of AAV-081 for patients with retinitis pigmentosa related to USH1B,” said Prof. Simonelli. “Through this innovative program, we aim to revolutionize our approach to understanding and treating these underserved patients. We are poised to generate robust evidence that will not only advance scientific knowledge, but also directly impact patient care.” Dr. Jayashree Sahni, CMO of AAVantgarde said, “It is an honour to work closely with Prof. Simonelli in this first-in-human clinical trial and leverage her great expertise in developing gene therapies for ophthalmology indications, with a goal of bringing this potentially novel therapy to the USH1B patient community as expeditiously as possible.” Prof. Alberto Auricchio, Founder and CSO of AAVantgarde added, “It is very exciting to have our dual hybrid technology finally tested clinically in an ophthalmology indication. I am very hopeful that all these years of research prove their value in helping these patients that have such a high unmet need.” Dr. Natalia Misciattelli, CEO of AAVantgarde added, “We are honoured to have Prof. Simonelli as Principal Investigator for this clinical study aimed at providing hope for USH1B patients that have no therapeutic options to prevent them from losing their sight. Prof. Simonelli is a pioneer in gene therapy in ophthalmology and her extensive experience in this space will be invaluable to the successful development of this novel therapy.” About the AAVB-081 programAAVB-081 is an intra-retinal AAV8-based dual hybrid product targeting MYO7A-associated Usher syndrome (USH1B). AAVantgarde’s dual hybrid platform uses two AAV8 vectors, each containing one half of an expression cassette encoding for the Myo7A gene and works at the cell nucleus level, recombining the two halves of the transgene back into a single one within the cell. This technology translates into an efficient recombination that generates therapeutically meaningful protein levels in animal models. About the LUCE-1 TrialLUCE-1 is a Phase 1/2 multicenter, open-label, dose escalation study investigating safety, tolerability and preliminary efficacy of 3 dose levels of dual AAV8.MYO7A (AAVB-081) administered subretinally in subjects with retinitis pigmentosa associated with Usher Syndrome Type 1B. About Usher syndrome type 1BUsher syndrome type 1B (Usher1B) is an inherited disease that affects the retina and the inner ear. Usher1B is caused by mutations in the MYO7A gene. The therapeutic gene to treat Usher1B is 6.7 kb long and is therefore too large to fit inside a standard AAV vector. Approximately 20,000 patients in the U.S. and E.U. have Usher1B. These children are born deaf, have vestibular dysfunction, and begin to progressively lose vision in their first decade of life. Although there are surgical treatments available to treat deafness in these patients, there are no treatments available to treat progressive vision loss and blindness in these patients. About AAVantgarde BioAAVantgarde Bio is a clinical stage, Italian headquartered, international biotechnology company that has developed two proprietary Adeno-Associated Viral (AAV) vector platforms to address the gene therapy cargo capacity limitations of AAV vectors. The AAVantgarde platforms could be used to deliver large genes to ocular and non-ocular tissues. Co-founded by Professor Alberto Auricchio at TIGEM (Telethon Institute of Genetics and Medicine) in Naples, Italy, and Telethon Foundation, AAVantgarde will initially validate the platform in the clinic in two inherited retinal diseases with clear unmet need. For more information, please visit: www.aavantgarde.com Contact:Julia Wilson - JW CommunicationsPhone: +44 (0) 7818 430877Email: juliawilsonuk@gmail.com

Critical starting material manufacture for therapeutic targeting high unmet need ophthalmology indication WILMINGTON, Mass.--(BUSINESS WIRE)-- Charles River Laboratories International, Inc. (NYSE: CRL) and AAVantgarde today announced a contract development and manufacturing organization (CDMO) agreement to produce Good Manufacturing Practice- (GMP) plasmid DNA. AAVantgarde, a clinical-stage biotechnology company with two proprietary adeno-associated viral (AAV) vector platforms for large gene delivery and developing products to treat inherited retinal diseases, will leverage Charles River’s expertise in manufacturing GMP plasmid DNA. AAVantgarde has two proprietary AAV-based large gene delivery platforms, both of which aim to enable efficient delivery of large genes to tissue and cells in vivo. Within this collaboration, Charles River will develop the plasmid DNA for AAVantgarde’s Stargardt’s disease program (AAVB-039), using their AAV-intein platform, which has demonstrated a very efficient recombination to deliver therapeutically meaningful protein levels. Stargardt’s is the most prevalent inherited macular dystrophy and is an autosomal recessive genetic disorder due to mutations in the ABCA4 gene characterized by progressive loss of central vision starting from childhood or adolescence, leading to profound vision loss. It is the most common form of inherited juvenile macular degeneration representing a very high unmet need as there are currently no therapies available for a disease that affects approximately 1:6,500 people. Plasmid DNA Manufacturing Services In recent years, Charles River has significantly broadened its cell and gene therapy portfolio to simplify complex supply chains and meet the growing demand for plasmid DNA, viral vector, and cell therapy services. Combined with Charles River’s legacy testing capabilities, developers can leverage a comprehensive “concept to cure” advanced therapies solution. Through this collaboration, AAVantgarde will have access to Charles River’s GMP plasmid DNA CDMO center of excellence based in Keele, United Kingdom, which will lead the collaboration and additional evaluation of off-the-shelf Rep/Cap and pHelper plasmid products in addition to GMP manufacturing services to support therapeutic development. To learn more about Charles River’s CDMO product and service portfolio, and gain real-world insights from a development, manufacturing, and testing perspective, available on demand is an expert roundtable hosted by Human Gene Therapy, Streamlining Cell and Gene Therapy Scalability: Progress Towards a Gold Standard, featuring panelists James Cody, PhD Associate Director, Technical Evaluations, Charles River and Lisa Kirkwood, Associate Director, Analytical, AAVantgarde: Approved Quotes “Charles River is thrilled to produce GMP plasmid DNA to help advance AAVantgarde’s platform for the treatment of Stargardt’s disease – a condition in which there is high unmet need. Our team brings more than two decades of CDMO expertise, and we look forward to leveraging these capabilities to make a difference for patients.” – Kerstin Dolph, Corporate Senior Vice President, Global Manufacturing, Charles River “By collaborating with Charles River, we are one step closer to beginning clinical trials to ensure our therapeutic product for Stargardt’s Disease is safe and efficacious for patients. We trust the team’s decades of success developing, producing, and reliably delivering plasmid DNA and look forward to expanding treatment options for this patient population.” – Nina Kotsopoulou, PhD, Chief Technical Officer, AAVantgarde About Charles River Charles River provides essential products and services to help pharmaceutical and biotechnology companies, government agencies and leading academic institutions around the globe accelerate their research and drug development efforts. Our dedicated employees are focused on providing clients with exactly what they need to improve and expedite the discovery, early-stage development and safe manufacture of new therapies for the patients who need them. To learn more about our unique portfolio and breadth of services, visit . About AAVantgarde AAVantgarde is a clinical-stage, Italian headquartered, international biotechnology company that has developed two proprietary adeno-associated viral (AAV) vector platforms to address the gene therapy cargo capacity limitations of AAV vectors. The AAVantgarde platforms could be used to deliver large genes to ocular and non-ocular tissues. Co-founded by Professor Alberto Auricchio at TIGEM (Telethon Institute of Genetics and Medicine) in Naples, Italy, and Telethon Foundation, AAVantgarde will initially validate the platforms in the clinic in two inherited retinal diseases with clear unmet need. For more information, please visit: .

European DNBSEQTM users share early access data demonstrating Q40 quality using the updated StandardMPS 2.0 sequencing chemistry MGI introduces its new DNBelab C-TaiM 4 Single-Cell Droplet Generator BERLIN, June 3, 2024 /PRNewswire/ -- MGI (MGI Tech Co., Ltd. or its subsidiaries, together referred to MGI), a company committed to building core tools and technologies that drive innovation in life science, today showcased its cutting-edge technologies via a Corporate Satellite Meeting at this year's European Society of Human Genetics (ESHG) conference in Berlin, Germany. MGI users across Europe, ranging from leading researchers to clinicians, academics, and industry leaders, shared first-hand insights on adopting MGI's core DNBSEQTM technology in screening, diagnostics, and population health initiatives among various applications, highlighting the strides MGI has made in advancing research in the life science sector across the region. Continue Reading MGI at ESHG 2024 During the meeting, Dr. Davide Cacchiarelli from the Telethon Institute of Genetics and Medicine in Italy credited DNBSEQTM for his organization's ability to offer affordable screening services for the Italian population. Dr. Paula Sancho Salmerón from Sistemas Genómicos in Spain demonstrated a diagnostic workflow for monogenic hereditary diseases, while Daniel Langhoff, Senior Director for Population & Consumer Genomics at Eurofins in Germany, presented a multi-omics approach in population health utilizing MGI's sequencing technology. Additionally, Dr. Marie-Laure Yaspo from Germany's ALACRIS Theranostics shared insights into the quality upgrade made possible by the new StandardMPS 2.0 (SM 2.0) sequencing chemistry, first announced during AGBT 2024 in February. Enabled by updated sequencing reagents and software, SM 2.0 delivers an impressive proportion of ≥85% for base quality scores reaching or exceeding Q40 during sequencing on MGI's DNBSEQTM platform. Continuous improvement of the sequencing chemistry, without necessitating changes to the instrument platform, underscores the company's commitment to quality and cost-effectiveness through innovation. During the conference, MGI also exhibited its fleet of sequencing equipment ranging from small to ultra-high throughput. Notably, the company launched its new DNBelab C-TaiM 4 (TaiM 4) Single-Cell Droplet Generator, designed to generate high-throughput single-cell RNA libraries compatible with DNBSEQTM instruments, including DNBSEQ-G400, DNBSEQ-T7 and DNBSEQ-T20×2. "I'm delighted that MGI is able to showcase new product and technological developments year on year during the premier genomics event in the region," shared Dr. Yong Hou, General Manager of MGI Europe and Africa. "We are thrilled to share with visitors our portfolio of sequencers and new single-cell device, as MGI continues to open new possibilities for DNBSEQTM users, particularly in the European and African markets." Backed by the advantage of cost-effectiveness, accuracy and technical capabilities, MGI continues to provide a reliable and efficient sequencing solution for both research and clinical applications by way of DNBSEQTM and relevant products, empowering the life science community to step into the future of genomics. For more information about DNBelab C-TaiM 4 Single-Cell Droplet Generator, please visit About MGI MGI Tech Co., Ltd. (or its subsidiaries, together referred to MGI) is committed to building core tools and technologies that drive innovation in life science. Our focus lies in research & development, manufacturing, and sales of instruments, reagents, and related products in the field of life science and biotechnology. We provide real-time, multi-omics, and full spectrum of digital equipment and systems for precision medicine, agriculture, healthcare and various other industries. Founded in 2016, MGI has grown into a leader in life science, serving customers across six continents and have established research, manufacturing, training, and after-sales service facilities globally. MGI stands out as one of the few companies capable of independently developing and mass-producing clinical-grade gene sequencers with varying throughput capacities, ranging from Gb to Tb levels. With unparalleled expertise, cutting-edge products, and a commitment to global impact, MGI continues to shape the trajectory of life sciences into the future. To learn more, please visit , LinkedIn, X, and YouTube. Photo - Logo -