Daniela Yovcheva - Lagah’s Post

With 20+ ciliopathies identified, affecting an estimated 1 in 1,000 people, the diseases can cause blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity, and diabetes.    Granted FDA Orphan Drug and Rare Pediatric Disease designations, learn more about Axovia Therapeutics' lead program, AXV101, an AAV9-based gene therapy targeting retinal dystrophy associated with BBS: https://okt.to/058rqo #AAV #genetherapy #raredisease

With 20+ ciliopathies identified, affecting an estimated 1 in 1,000 people, the diseases can cause blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity, and diabetes.    Granted FDA Orphan Drug and Rare Pediatric Disease designations, learn more about Axovia Therapeutics' lead program, AXV101, an AAV9-based gene therapy targeting retinal dystrophy associated with BBS: https://okt.to/v2fJKV #AAV #genetherapy #raredisease

More than 20 ciliopathies have been identified, affecting about 1 in every 1,000 people. These disorders can result in severe complications like vision and hearing loss, ongoing respiratory infections, kidney issues, cardiovascular problems, infertility, obesity, and diabetes. Explore Axovia Therapeutics' groundbreaking project, AXV101, an AAV9-based gene therapy developed to target retinal dystrophy associated with BBS, which has received FDA Orphan Drug and Rare Pediatric Disease designations: https://okt.to/5tHyUR #AAV #genetherapy #raredisease

Today, the US FDA approved Lenmeldy (atidarsagene autotemcel) for the treatment of pre-symtompatic or early onset juvenile metachromatic leukodystrophy (MLD). MLD is a life-threatening rare genetic disease caused by deficiency of an enzyme called arylsulfatase A (ARSA), leading to damage of the nervous system, loss of motor and cognitive function, and early deaths. This is the first FDA-approved treatment option for children who have this debilitating disease beside bone marrow transplantation. For scientists and drug hunters, this marks the first clinical proof-of-concept of genome editing hematopoietic stem cells with lentivirus to rescue disease of the nervous system. My deepest respect to the trail blazers who developed Lenmeldy to treat this rare genetic disease with no treatment option, and demonstrating a path for the scientific community. #celltherapy #cellandgenetherapy #fda #geneediting #genetherapy #stemcells https://lnkd.in/eJ8wY3Rh).

Recent research has identified new therapeutic targets for diabetic kidney disease (DKD), the leading cause of kidney failure globally. Published in Nature Communications, the study highlights specific cellular changes in the kidney due to insulin resistance, a key factor in DKD. By examining these changes in kidney cells and comparing them with patient biopsies, researchers have pinpointed potential targets for gene and drug therapies. This advancement offers hope for preventing the progression of DKD to end-stage kidney failure, potentially reducing the need for dialysis or transplants. The next step involves advancing these targets into pre-clinical and clinical trials.

Expanding Treatment Horizons for Sickle Cell Disease: Barriers, Innovations, and Future Directions: Treatment advancements highlight the curative potential of bone marrow transplants and emerging gene therapies. #finance #pharmacy #lifesciences

Niemann–Pick Disease (NPD) type C is a neurological disorder caused by mutations in the NPC1 or NPC2 genes, affecting cholesterol trafficking and esterification. Despite efforts to find effective therapies, only limited options are available, with miglustat being the sole approved disease-modifying treatment. This review provides an overview of the genetic basis and lung involvement in NPD, focusing on clinical, radiologic, and histopathologic features, and current and future therapeutic strategies. Cyclodextrin treatment is highlighted as a potential future therapy, along with arimoclomol, acetyl-L-leucine, and gene therapy. This paper is recommended for those interested in the various types of Niemann-Pick diseases. For a deeper insight, click on the link and read Eva Fenyvesi's blog post on Cyclodextrin News: https://lnkd.in/dwj82s4t #cyclolab #cyclodextrin #cyclolab #cyclodextrin #NiemannPickDisease #NPC #raredisease #neurological #neurologicaldisorder #treatment #therapy #miglustat #pharma #pharmaceutical #pharmaindustry #science #chemistry #research

Quite a nice (and updated) review -RNA therapeutics and LNPs for extrahepatic delivery LNPs have become a cornerstone in delivering RNA therapeutics, successfully used in mRNA vaccines and gene therapies. Despite their success, LNPs' tendency to preferentially accumulate in the liver remains a critical limitation. This liver tropism hinders their effectiveness in treating diseases in other organs, such as the lungs, brain, and pancreas. 🔬 Recent research has made significant strides in re-engineering LNPs to deliver RNA to organs beyond the liver. One approach is to adjust the composition of LNP formulations, either by adding a cationic lipid (like DOTAP) or replacing the ionizable lipid's ester linkers with amide linkers. These modifications change the physicochemical properties of LNPs, influencing the biomolecular corona that forms post-administration, which ultimately determines organ-specific targeting. For instance, lung-targeted LNPs can transfect up to 65% of endothelial cells and 40% of epithelial cells in the lungs, demonstrating a potential breakthrough for treating pulmonary diseases like cystic fibrosis and pulmonary fibrosis. Spleen-specific delivery has been achieved by incorporating anionic lipids, enabling the targeting of immune cells like macrophages and T cells, essential for in vivo immunotherapy applications. Meanwhile, LNPs designed for bone marrow delivery are showing promise in treating hematopoietic disorders like sickle cell disease. 🧠 Still, delivering RNA to the brain remains a considerable challenge (you know, the usual BBB). However, promising strategies, like adding neurotransmitter-derived lipids to LNP formulations, are showing early success in crossing this barrier, paving the way for treating neurological diseases. 🎯 As we look to the future, designing LNPs that can target specific cell types and improve safety profiles is paramount. Advances in overcoming physiological barriers, such as the BBB and tissue-specific targeting, will revolutionize how we approach gene therapies for previously untreatable conditions. From organ-selective LNPs to fine-tuned biomolecular coronas, the future of RNA delivery is more promising than ever. Learn more here: https://lnkd.in/ecQjkNaq #Nanomedicine #LipidNanoparticles #GeneTherapy #RNA #BiotechInnovation #TargetedDelivery #DrugDelivery

August has seen some great successes for the cell and gene therapy space, with significant milestones achieved across various diseases, showcasing the potential of innovative treatments to address critical unmet medical needs. Ocugen OCU400 gene therapy for retinitis pigmentosa (RP) received FDA approval for an Expanded Access Program, providing more patients access to this potential one-time treatment ahead of full approval. Sangamo Therapeutics, Inc. partnered with Genentech to develop genomic medicines for neurodegenerative diseases, using advanced zinc finger repressors and AAV capsid technology, with potential milestone payments of up to $1.9 billion. IN8bio received FDA guidance for advancing INB-100, an allogeneic gamma-delta T-cell therapy, to a registrational Phase 2 trial for acute myeloid leukemia (AML). Early results from Phase 1 trials show promising relapse-free survival in patients, with plans to initiate the Phase 2 trial next year. 4D Molecular Therapeutics resumed its Phase 1/2 trial for 4D-310, a gene therapy for Fabry disease, after the FDA lifted its clinical hold. The therapy continues to show promising cardiac improvements with no new significant adverse events. TG Therapeutics, Inc. received FDA clearance to initiate a Phase 1 trial for azercabtagene zapreleucel (azer-cel), an allogeneic CAR-T therapy targeting progressive multiple sclerosis (MS), marking a significant step forward in using cell therapy for autoimmune diseases. These advancements underscore the rapid progress and potential impact of cell and gene therapies in transforming patient care. #CellTherapy #GeneTherapy #CGT

🌟 The European Commission's recent approval of CASGEVY™, the first CRISPR/Cas9 gene-edited therapy for severe sickle cell disease and transfusion-dependent beta thalassemia, represents a transformative leap forward in the treatment of these genetic diseases. 🌟 While we celebrate this groundbreaking achievement, it's a moment to reflect on the critical importance of precision and safety in gene editing. At SeQure Dx, our commitment to advancing genomics intelligence underscores the value of meticulous off-target analysis to ensure the safe application of such innovative therapies. This approval not only opens new doors for patients but also highlights the collaborative effort in the scientific community to turn genetic research into life-changing treatments. As we look to the future, let's continue to push the boundaries of science and technology, ensuring that every step we take is guided by precision, safety, and the wellbeing of patients worldwide. Read More ➡️ https://lnkd.in/empSX_Rp #genomics #crispr #geneediting #innovationinhealthcare