Endogena Therapeutics, Inc.’s Post

Our Selective Organ Targeting (SORT) next-generation lipid #nanoparticle (LNP) platform has been a cornerstone in our research efforts to restore ciliary function in the lungs of people with #PCD caused by pathogenic mutations in the DNAI1 gene. Developed in collaboration with the University of North Carolina at Chapel Hill and UT Southwestern Medical Center, our mRNA-based #therapy is optimized and formulated in SORT LNPs, which are engineered with a biochemically distinct fifth lipid to help the body “sort” and direct the LNPs to targeted cells and organs.  Preclinical data show that our DNAI1 mRNA leads to DNAI1 protein production in target cells and can rescue ciliary function. In cell-based knock-out models, the restored ciliary function persisted for weeks after the last treatment. Through continued research, we aim to develop a much-needed therapy for people with PCD and highlight the vast potential of mRNA-based therapies for other rare and common genetic diseases. #GeneticMedicine #PCD #mRNATherapy

🌟Breaking News: FDA Grants Approval to Elevidys and Proposes Rare Disease Hub🌟 Exciting updates from the FDA! Peter Marks, Director of CBER, granted expanded approval to Sarepta Therapeutics' gene therapy, Elevidys, for Duchenne muscular dystrophy (DMD). 🧬 Despite concerns about its effectiveness, over 80% of DMD patients now have access. This underscores the unmet needs in DMD treatment. 📝 Priced at $3.2 million, Elevidys will now reach more patients, focusing on mobility improvements. While primary endpoints weren't met, secondary data convinced Marks of its efficacy given the lack of alternatives. Marks also proposed a rare disease hub within the FDA to enhance collaboration, inspired by the Oncology Center of Excellence (OCE). This aligns with legislative efforts like the H.R. 7384 Creating Hope Reauthorization Act, aimed at advancing rare pediatric disease research. 💡 This initiative is a step forward in accelerating medication development for severe and rare diseases, ensuring innovative treatments reach patients faster. #MedTech #Duchenne #FDAApproval FloodGate Medical

4 important approvals by FDA this week: - expanded approval for Sarepta Therapeutics' #Elevidys, a gene therapy to treat ambulatory and non-ambulatory individuals aged four and older suffering from Duchenne muscular dystrophy (DMD). Of note, the primary endpoint of improving motor function failed, but the secondary endpoints were met.https://https://lnkd.in/eyyS8XNh. - Merck's #Keytruda was authorized in combination with chemotherapy followed by the PD-1 inhibitor as a monotherapy in patients suffering from primary advanced or recurrent endometrial cancer (40th U.S. indication approved).https://lnkd.in/eXZSnayr. - accelerated approval for GENFIT / Ipsen 's #Iqirvo (elafibranor) as a first-in-class treatment for primary biliary cholangitis (PBC). a rare liver disease. https://lnkd.in/e725xksQ. - approval for AbbVie's #Skyrizi (anti-IL23 mA ) to treat moderately to severely active ulcerative colitis in adults. https://lnkd.in/erC6Ga2z

Yesterday, EUPATI ensured the coordination of the inaugural meeting of the Multistakeholder Advisory Committee (MAC) for the GEREMY (EU project). 💡 This entity will: ✅ Offer advice/constructive feedback and provide the patient perspective on all aspects of the project, such as the social embedding elements (WP5) as well as the review of guidelines and outputs of the project (WP6 - Preparation for clinical trials and other regulatory aspects) ✅ Raise Consortium Members’ awareness about meaningful patient engagement and its implementing measures on a regular basis This is an innovative approach for patient’s involvement within a very promising project! Since 2023 EUPATI is actively involved in the EU Project “GEREMY”. The Consortium is led by the Netherlands Heart Institute. The project aims to develop a novel approach which aims to deliver the first cardiac Gene Therapy for treatment of rare inherited forms of Arrhythmogenic cardiomyopathy.   EUPATI is supporting the Consortium on different levels, in particular: ✅ Ensure a patient-centred approach ✅Train and guide Consortium members about patient engagement in clinical development ✅Contribute to communication and dissemination activities #GEREMYProject #EUPATI #Collaboration #PatientEngagement

Have you seen our conference poster, "The therapeutic potential of microRNA in MAFLD/MASH and obesity," in our newly dedicated section for scientific poster presentations on our website? This presentation explores the role of microRNAs (miRNAs), particularly microRNA-22 (miR-22), in the regulation of gene expression impacting lipid and metabolic homeostasis, which has implications for understanding and treating metabolic disorders. In this study, we identified microRNA-22 (miR-22) as a key regulator of lipid and metabolic homeostasis using miR-22 knockout and transgenic mice, respectively. Specifically, we identified three major metabolic players that are under miR-22 control and that can regulate lipid biosynthesis, mitochondrial biogenesis, and beiging of white adipose tissue. Additionally, this research demonstrated that systemic administration of the anti-miR-22 oligonucleotide compound was both safe and well-tolerated, showcasing a promising reduction in hepatic lipid accumulation and a subsequent loss in weight in preclinical models.

At the British Inherited Metabolic Disease Group (BIMDG) Annual Conference in Wales earlier today, our collaborator at UCL, Dr Berna Seker Yilmaz, presented the preliminary findings from the UK’s largest OTCD patient follow-up study, which she is leading at UCL. Dr Yilmaz illustrated current management and metabolic and neurological outcomes of both liver transplanted and non-transplanted OTCD patients, highlighting the important unmet medical needs still faced by these patients today. The findings will be the subject of a future scientific publication. Bloomsbury is actively developing BGT-OTCD, a best-in-class AAV gene therapy treatment for ornithine transcarbamylase deficiency (OTCD), which is currently being evaluated in HORACE, a Phase 1/2 clinical trial initiated in November 2023. Find out more about HORACE: https://lnkd.in/dFVkTnWQ Read the latest about BGT-OTCD: https://lnkd.in/e_SQp8sR #genetherapy #rarediseases #orphandrugs #aav #metabolicdisorders #advancedtherapies #clinicalresearch #OTCdeficiency #ureacycledisorder #ucd #ThinkAmmonia

Uncover the predictive power of ITPA genetic variants in thiopurine-related myelotoxicity for Crohn’s disease patients! This study reveals how gene polymorphisms influence adverse events during thiopurine therapy, offering crucial insights for personalized treatment. 🧬💊 Explore the impact of ITPA IVS2 + 21 A>C polymorphism and advanced age on adverse events, guiding future strategies for safer and more effective treatment approaches. Stay informed on the latest advancements in pharmacogenomics for Crohn's disease management. Your understanding of genetic variants can shape the future of personalized medicine in gastroenterology! 🧪💡 #Pharmacogenomics #CrohnsDisease #PersonalizedMedicine URL: https://lnkd.in/e8w5pRvP

🔬 AGTC Genomics PreciseDx™ Comprehensive Gene Profiling (CGP) for Cancers service. PreciseDx™ is a comprehensive gene profiling tool that provides a comprehensive view of genomic alterations, designed to shorten the duration of treatment decision-making, empowering you to make informed and confident decisions for your patients. It analyzes hundreds of clinically actionable biomarkers simultaneously, and measures TMB and MSI. The PreciseDx™ CGP can replace multiple single-gene tests or small hotspot panels with one comprehensive test, decreasing the need to re-biopsy to obtain more data. It also offers a faster turnaround time than sequential iterative testing. Using CGP to match patients with targeted or immunotherapies has been linked to improved clinical outcomes, including increased objective response rate, overall survival, and progression-free survival. #ngs #genomics #precisionmedicine #precisiononcology #cancer

💡 👨🔬 Breakthrough Multi-Cancer Early Detection Research Findings at Prestigious American Society of Clinical Oncology (ASCO) Annual Meeting 2024 in Chicago 🌎 Dr. Le Son Tran, the SPOT-MAS R&D Team leader from Medical Genetics Institute Ho Chi Minh City and Gene Solutions is set to present breakthrough findings at the upcoming prestigious oncology conference this weekend. Since 2022, Gene Solutions kicked off the largest and most comprehensive multi-center prospective study, K-DETEK, to clinically validate the diagnostic performance of SPOT-MAS - recruiting 10,027 asymptomatic individuals aged 40 years or older. Our team is looking forward to share our findings at our poster session. The MCED team at Medical Genetics Institute Ho Chi Minh City and Gene Solutions developed a novel approach - Screening for the Presence Of Tumor by Methylation And Size (SPOT-MAS), which offers a comprehensive analysis through the integration of methylation, fragment length profile, DNA copy number aberration and end motif in a single library reaction. It was designed to simultaneously detect five common types of cancer, including liver, breast, colorectal, gastric, and lung cancer, and predict the tissue origin of cancer signal. Read more about our K-DETEK study abstract here: https://lnkd.in/gjNd9unN Future of Oncology: The strong performance of the K-DETEK study underpins the potential to shape the future direction of oncology research and treatment. The research team welcomes collaborative opportunities and anticipates our participation at ASCO Annual Meeting will provide a platform for collaboration among top oncology professionals. The conference will run from May 31 to June 4, at McCormick Place, Chicago USA and is also available online. It is an opportunity not to be missed for anyone interested in the forefront of cancer research. Our team is happy to meet up at ASCO in person - please DM us if you are keen to connect, or join us at our poster session: https://lnkd.in/gk83xwjG #MCED #SPOTMAS #KDETEK #earlydetectionsaveslives

We are excited to announce that Malavika Ghosh, Senior Vice President, Preclinical Efficacy Testing, Aragen Bioscience, will be presenting a poster on "Phenotypic Characterization of Repetitive Bleomycin-Induced Chronic Pulmonary Fibrosis Model in Mice" at the 8th Annual IPF Summit from August 20-22, 2024 in Boston, MA. Idiopathic pulmonary fibrosis (IPF) is a severe and progressive lung disease. Research done by our experts, established a repetitive bleomycin model in mice that accurately reflects the persistent and progressive nature of human IPF. Through three bi-weekly bleomycin instillations, our model demonstrates significant fibrosis progression, impaired lung function, and consistent gene expression and cytokine profiles, making it a valuable tool for studying progressive fibrosis. Visit us at Booth No. 2 to learn more about this innovative model and its implications for IPF research. Click here https://lnkd.in/gFff_EP6 to block a meeting slot now with our experts. See you in Boston! Danielle Liu #summits2024 #posterpresentation #boston #pulmonary #fibrosis #preclinical #lungdiseases #cdmo #cro #endtoendsolutions