RPGR

Johnson & Johnson’s gene therapy for a genetic disease that leads to vision loss called X-linked retinitis pigmentosa (XLRP) failed a pivotal trial, according to an update to a J&J healthcare provider website. At one year, the gene therapy, called bota-vec, didn’t meet its primary endpoint in the Phase 3 LUMEOS study, though results were “directionally supportive,” according to the website , which appears to have been updated Friday. The primary endpoint measured the change in patients’ ability to navigate through a vision-guided mobility assessment maze. “We’re working to understand the totality of the data, inclusive of the clinical relevance of improvement shown on the majority of secondary endpoints, as we evaluate strategic options and next steps,” a J&J spokesperson told Endpoints News via email. The Phase 3 study fail comes as large biopharma companies are pulling back from AAV gene therapy work. Vertex became the latest company to stop research on AAV gene therapy, Endpoints reported Friday. And Pfizer, Takeda, Roche and Biogen have previously cut back on AAV gene therapy research or clinical programs. J&J acquired the gene therapy, known as bota-vec, from MeiraGTx for $65 million upfront in 2023 after previously making licensing deals for three eye disease gene therapies, including bota-vec, from the smaller biotech. The gene therapy delivers functional copies of the RPGR gene via viral packages called adeno-associated viruses, or AAVs. That gene is mutated in people with X-linked retinitis pigmentosa, a disease that primarily impacts boys and men. The Phase 3 study had enrolled 95 participants and split them into three groups: low-dose gene therapy, high-dose gene therapy, or deferred treatment — a group of patients who served as the comparator arm and were meant to receive the gene therapy after the primary endpoint measurement. A Biogen gene therapy for XLRP failed a mid-stage study in 2021. Beacon Therapeutics is studying a gene therapy for the rare eye disease, and last year raised $170 million. Editor’s note: This story was updated to include a statement from a J&J spokesperson.

LONDON and CAMBRIDGE, Mass., April 24, 2025 /PRNewswire/ -- Beacon Therapeutics Holdings Limited ('Beacon Therapeutics' or 'the Company'), a leading clinical-stage biotechnology company with a mission to save and restore the vision of patients with blinding retinal diseases, today announces an upcoming presentation on 6-month interim safety and efficacy results from the Phase 2 DAWN trial of the Company's lead program, laru-zova (laruparetigene zovaparvovec), in patients with X-linked retinitis pigmentosa (XLRP) at the Association for Research in Vision and Ophthalmology (ARVO) 2025 Annual Meeting being held May 4-8, 2025 in Salt Lake City. Presentation details: Presentation t itle: Subretinal gene therapy laru-zova (AGTC-501) for X-linked retinitis pigmentosa (XLRP): Phase 2 DAWN preliminary month 6 results Session title: Clinical advances in cell and gene therapy Date: Tuesday, May 6, 2025 Presenter: Mark Pennesi, M.D., Ph.D., FARVO, Director, Ophthalmic Genetics at the Retina Foundation in Dallas, Texas; Professor of Ophthalmology and Professor of Molecular and Medical Genetics, and Chief of the Paul H. Casey Ophthalmic Genetics Division at the Casey Eye Institute, Oregon Health and Science University in Portland, Oregon Beacon Therapeutics is currently enrolling patients for its pivotal Phase 2/3 VISTA trial of laru-zova as it develops this potential treatment for patients with XLRP. About laru-zova Laru-zova (laruparetigene zovaparvovec) is a potential best-in-class gene therapy currently being investigated for the treatment of patients with X-linked retinitis pigmentosa (XLRP). Laru-zova has the potential to restore the natural function of both rods and cones in XLRP by delivering a functional copy of the RPGRORF15 gene designed to produce the full-length protein. Laru-zova has Regenerative Medicine Advanced Therapy (RMAT) and Fast Track designations from the U.S. Food and Drug Administration (FDA), Priority Medicines (PRIME) designation from the European Medicines Agency (EMA), Innovative Licensing and Access Pathway (ILAP) from the UK's Medicines and Healthcare products Regulatory Agency (MHRA), as well as Orphan Drug Designation (ODD) from the FDA and EMA. About the DAWN and VISTA Studies DAWN (NCT06275620) is a Phase 2, open-label study of laru-zova in the fellow eye of male participants with XLRP who have previously been treated with an AAV vector-based gene therapy delivering the full-length RPGR protein. The objective of DAWN is to assess two different dose levels of laru-zova for efficacy, safety and tolerability in the target population. DAWN is also evaluating the changes in visual function and functional vision, and is the first trial in the laru-zova clinical development program that is collecting and evaluating low luminance visual acuity (LLVA) data. VISTA (NCT04850118) is a Phase 2/3, randomized, controlled, masked, multi-center pivotal study evaluating the efficacy, safety and tolerability of laru-zova in two study groups compared to an untreated control group. The study will evaluate the proportion of participants with a 15 or more letter increase from baseline in LLVA and additional measures of functional vision. The VISTA study is currently enrolling. About XLRP X-linked retinitis pigmentosa (XLRP) is an inherited retinal disease that predominantly affects males, typically caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. The mutations, which affect approximately 1 in 25,000 males in the U.S., Europe and Australia, result in progressive photoreceptor loss over time and visual dysfunction beginning in childhood, eventually leading to blindness and impacting quality of life with no approved treatments. About Beacon Therapeutics Beacon Therapeutics is a clinical-stage biotechnology company with a mission to save and restore the vision of patients with blinding retinal diseases. The Company has an established scientific foundation that includes a late-stage clinical development candidate to treat XLRP and two preclinical programs targeting dry age-related macular degeneration (AMD) and an inherited cone-rod dystrophy (CRD). Beacon Therapeutics' investors include Syncona Limited, Forbion, Oxford Science Enterprises, TCGX and Advent Life Sciences, among others. Learn more about Beacon Therapeutics at beacontx.com. Contact: [email protected] Media: [email protected] SOURCE Beacon Therapeutics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

LUXTURNA has significant market potential due to the high unmet need for effective treatments in rare genetic conditions. With its FDA approval for specific mutations in the RPE65 gene, it offers hope to patients who previously had limited options. The growing awareness and adoption of gene therapies in ophthalmology, along with advancements in personalized medicine, are expected to expand LUXTURNA's market reach. LAS VEGAS, March 26, 2025 /PRNewswire/ -- DelveInsight's " LUXTURNA Market Size, Forecast, and Market Insight Report" highlights the details around LUXTURNA, a one-time gene therapy for the treatment of patients with vision loss due to a genetic mutation in both copies of the RPE65 gene. The report provides product descriptions, patent details, and competitor products (marketed and emerging therapies) of LUXTURNA. The report also highlights the historical and forecasted sales from 2020 to 2034 segmented into 7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan]. Spark Therapeutics/Novartis' LUXTURNA (AAV2-hRPE65v2; voretigene neparvovec) Overview LUXTURNA (voretigene neparvovec-rzyl, AAV2-hRPE65v2) is a one-time gene therapy designed to treat vision loss caused by mutations in both copies of the RPE65 gene. It works by delivering a functional copy of the RPE65 gene to replace the faulty one, helping to restore vision. The therapy is administered as a single subretinal injection beneath the retina in patients with confirmed RPE65 mutations and viable retinal cells. LUXTURNA was developed and commercialized in the US by Spark Therapeutics. Outside the US, Novartis holds the rights for development, registration, and commercialization under a licensing agreement. It is approved for treating vision loss caused by Leber's congenital amaurosis or retinitis pigmentosa due to confirmed biallelic RPE65 mutations. LUXTURNA uses an adeno-associated viral type 2 (AAV2) vector to deliver the RPE65 gene. The vector includes a cytomegalovirus (CMV) enhancer and a chicken beta-actin promoter to drive the expression of the normal human RPE65 protein. The parent AAV2 virus, which serves as the template, is a non-pathogenic, single-stranded DNA virus that depends on a helper virus for replication. Once inside retinal cells, the functional RPE65 protein enables the regeneration of 11-cis-retinal, which improves light detection and restores vision. In healthy individuals, RPE65 in retinal pigment epithelial cells converts all-trans-retinol into 11-cis-retinol, which then forms 11-cis-retinal—a critical step in the visual cycle that converts light into electrical signals. Mutations in the RPE65 gene disrupt this process, leading to vision loss. LUXTURNA restores the retinoid cycle by reintroducing functional RPE65 protein. LUXTURNA Dosage and Administration The recommended dose for each eye is 1.5 × 10¹¹ vector genomes (vg) in a 0.3 mL volume, administered via subretinal injection. Each eye should be treated on different days, with at least six days between injections. Oral corticosteroids equivalent to prednisone at 1 mg/kg/day (up to 40 mg/day) should be given for seven days, starting three days before injection, followed by a tapering dose over the next 10 days. LUXTURNA Dosage Forms and Strengths LUXTURNA is provided as a suspension for subretinal injection in a 0.5 mL extractable volume within a 2 mL single-dose vial. The concentration is 5 × 10¹² vg/mL, requiring a 1:10 dilution before use. The diluent is supplied in two single-use 2 mL vials. Learn more about LUXTURNA projected market size for retinitis pigmentosa @ LUXTURNA Market Potential Retinitis pigmentosa is a group of inherited retinal disorders that cause progressive degeneration of the retina and eventual blindness. It involves the gradual bilateral deterioration of rod and cone photoreceptors, leading to night blindness and progressive loss of peripheral vision, followed by a decline in central vision due to the loss of cone function. Retinitis pigmentosa is primarily linked to genetic mutations, with over 44 associated genes identified. In 2023, approximately 113,000 people in the US were affected by retinitis pigmentosa. Currently, available treatments are mainly off-label and do not address the underlying genetic causes of retinitis pigmentosa. Patients without the RPE65 mutation rely on supportive care, such as vitamin supplements, protection from sunlight, and visual aids. LUXTURNA is the only approved therapy for retinitis pigmentosa but is limited to patients with the RPE65 mutation. Gene and cell therapies are becoming key treatment strategies, targeting genes like RHO, USH2A, and RPGR. USH2A is a major focus, with two oligonucleotide candidates advancing in the RP pipeline. Optogenetics offers a novel gene therapy approach that works independently of specific gene mutations and shows promise in treating late-stage RP with severe photoreceptor loss. Several companies have progressed optogenetic gene therapies into clinical trials. According to DelveInsight, the retinitis pigmentosa gene therapy market is expected to grow due to increasing disease prevalence, improved awareness and treatment access, and a strong pipeline of therapies across the 7MM. Discover more about the retinitis pigmentosa market in detail @ Retinitis Pigmentosa Market Report Emerging Competitors of LUXTURNA Some of the drugs in the retinitis pigmentosa pipeline include Botaretigene sparoparvovec (Johnson & Johnson Innovative Medicine/MeiraGT), AGTC-501 (Beacon Therapeutics), MCO-010 (Nanoscope Therapeutics), GS030 (Gensight Biologics), CTx PDE6B (Coave Therapeutics), OCU 400 (Ocugen), jCell (jCyte), EA-2353 (Endogena Therapeutics), Ultevursen (ProQR Therapeutics), ADX‑2191 (Aldeyra Therapeutics), and other. In January 2025, Beacon Therapeutics Holdings Limited reported that the FDA has awarded Regenerative Medicine Advanced Therapy (RMAT) designation to laru-zova (laruparetigene zovaparvovec) for treating X-linked retinitis pigmentosa (XLRP). To know more about the number of competing drugs in development, visit @ LUXTURNA Market Positioning Compared to Other Drugs Key Milestones of LUXTURNA In October 2023, SpliceBio entered an exclusive collaboration and licensing agreement with Spark Therapeutics to utilize SpliceBio's proprietary Protein Splicing platform to develop a gene therapy for an undisclosed inherited retinal disease. In June 2023, Novartis Pharma obtained manufacturing and marketing approval for LUXTURNA in Japan as a gene therapy for IRD caused by mutations in both copies of the RPE65 gene. In November 2018, Novartis announced that the European Commission (EU) approved LUXTURNA for the treatment of patients with vision loss due to a genetic mutation in both copies of the RPE65 gene and who have enough viable retinal cells. The authorization is valid in all 28 member states of the EU, as well as Iceland, Liechtenstein, and Norway. In January 2018, Novartis entered into a licensing agreement with Spark Therapeutics covering development, registration, and commercialization rights to voretigene neparvovec in markets outside the US. Spark Therapeutics retains US rights for LUXTURNA. In December 2017, the FDA approved Spark Therapeutics' LUXTURNA for patients with confirmed Bi-allelic RPE65 Mutation-associated Retinal Dystrophy. In July 2017, Spark Therapeutics announced that the Offices of Orphan Products Development and Pediatric Therapeutics of the US FDA designated LUXTURNA as a drug for a rare pediatric disease. In October 2016, LUXTURNA granted ODD for the treatment of inherited retinal dystrophy due to bi-allelic RPE65 mutation. In July 2015, LUXTURNA was designated as an orphan medicinal product for the treatment of retinitis pigmentosa. In September 2014, the US FDA granted LUXTURNA a Breakthrough Therapy Designation for Inherited retinal dystrophy. LUXTURNA Patent Details The company holds the following patents related to its AAV-based retinal gene therapy: US patent application relating to cell transfection improvements for AAV vector production. We expect that any patents issued from this application will expire in 2038, excluding any potential patent term extension or adjustment. A US patent application relating to improvements in AAV vector purification. It expects that any patent from this application will expire in 2038, excluding any potential patent term extension or adjustment. Patent for manufacturing gene therapy vector Spark Therapeutics holds exclusive licenses for three patent application families from CHOP, covering scalable methods for manufacturing high-purity gene therapy vectors. The first patent family pertains to the production of Spark's product candidates, including those under its collaboration with Pfizer. Patents from this family have been granted in the United States, Australia, and Mexico, with expiration dates in 2021, not accounting for any potential extensions or adjustments. Related patent applications are still under review in the United States, Brazil, Canada, China, Europe, Israel, India, and Japan. If granted, these patents are expected to expire in 2031, excluding any possible extensions or adjustments. Modified AAV vectors and gene delivery Spark Therapeutics is advancing technology across multiple areas to enhance and broaden its current product pipeline. This technology, exclusively licensed from CHOP, focuses on modifying gene therapy vectors, incorporating companion therapies or diagnostics, and developing new therapeutic genes. The licensed patent portfolio includes: Six US patent applications covering alternative or modified AAV vectors for gene delivery. Any resulting patents are expected to expire between 2028 and 2034, excluding possible patent term extensions or adjustments. Two pending US patent applications related to inhibiting immune responses to AAV vectors and detecting AAV-binding antibodies. Any patents granted from these applications are anticipated to expire between 2032 and 2034, excluding potential patent term extensions or adjustments. Discover how LUXTURNA is shaping the retinitis pigmentosa treatment landscape @ LUXTURNA Gene Therapy LUXTURNA Market Dynamics The market for LUXTURNA is primarily driven by the increasing prevalence of inherited retinal diseases (IRDs) and the growing acceptance of gene therapy as a viable treatment option. The high unmet medical need for effective treatments for rare genetic diseases has created a favorable environment for LUXTURNA. The therapy's ability to deliver long-term benefits from a single administration, reducing the burden of repeated treatments, has also contributed to its market acceptance. Furthermore, the strong backing from Roche, with its extensive commercialization and market access infrastructure, has helped expand LUXTURNA's reach across multiple markets. Favorable reimbursement policies in the U.S. and Europe have further supported market uptake. Despite its success, LUXTURNA faces significant market challenges. The high cost of treatment, which exceeds $850,000 for both eyes, poses a barrier to widespread adoption, even with reimbursement support. Access to treatment is also limited by the need for specialized surgical centers and trained ophthalmologists, which restricts the therapy's availability to select geographic regions. Moreover, as gene therapy technology evolves, the emergence of newer, potentially more effective or cost-efficient treatments could pose competitive pressure. Additionally, the complexity of gene therapy manufacturing and delivery, along with stringent regulatory requirements, adds to the operational challenges faced by Spark Therapeutics and Roche. The future market dynamics of LUXTURNA are expected to be influenced by ongoing advancements in gene therapy, increasing diagnostic capabilities for inherited retinal diseases, and expanding treatment infrastructure. Strategic partnerships and continued investment in patient access programs and healthcare provider training could enhance market penetration. Additionally, the successful clinical outcomes and long-term durability of LUXTURNA will play a crucial role in sustaining patient and physician confidence. As the gene therapy market matures, LUXTURNA's position as a first-mover in the inherited retinal disease space will likely provide it with a competitive edge, although it will need to navigate pricing pressures and emerging competition in the broader ophthalmology and gene therapy markets. Dive deeper to get more insight into LUXTURNA's strengths & weaknesses relative to competitors @ LUXTURNA Market Drug Report Table of Contents Related Reports Retinitis Pigmentosa Market Retinitis Pigmentosa Market Insights, Epidemiology, and Market Forecast – 2034 report deliver an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key retinitis pigmentosa companies including Johnson & Johnson Innovative Medicine, MeiraGTx, Beacon Therapeutics, Nanoscope Therapeutics, Gensight Biologics, 4D Molecular Therapeutics, Coave Therapeutics, Ocugen, Bionic Sight, jCyte, Endogena Therapeutics, ProQR Therapeutics, Aldeyra Therapeutics, among others. Retinitis Pigmentosa Pipeline Retinitis Pigmentosa Pipeline Insight – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key retinitis pigmentosa companies, including Acucela Inc, Allergan Plc, Amarantus Bioscience Holdings Inc, Amgen Inc, Applied Genetic Technologies Corp, Asklepios BioPharmaceutical Inc, Astellas Pharma Inc, Caladrius Biosciences Inc, Dompe Farmaceutici SpA, GenSight Biologics SA, Grupo Ferrer Internacional SA, IDPharma Co Ltd, Janssen Pharmaceutical, MeiraGTx, Anabasis Pharma, Allegro Ophthalmics, Nacuity Pharmaceuticals, ReNeuron, jCyte, Editas Medicine, SanBio, NightstarTherapeutics, Biogen, OiDE OptoEye, among others. Cell and Gene Therapies in Rare Disorders Market Cell and Gene Therapies in Rare Disorders Market Insights, Epidemiology, and Market Forecast – 2034 report deliver an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key cell and gene therapies in rare disorders companies including REGENXBIO, Coave Therapeutics, GenSight Biologics, Ultragenyx, Pfizer, Sangamo Therapeutics, Roche, 4D Molecular Therapeutics, Astellas Gene Therapie, Actus Therapeutics, Nanoscope Therapeutics, Ocugen, jCyte, Amicus Therapeutics, Capricor Therapeutics, Nippon Shinyaku, Brainstorm Cell Therapeutics, Editas Medicine, Abeona Therapeutics, Ishin Pharma, among others. Gene Therapy Competitive Landscape Gene Therapy Competitive Landscape – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key gene therapy companies, including Novartis, Johnson & Johnson, Fibrocell Technologies, Pfizer, HELIXMITH Co., Ltd., Sarepta Therapeutics, REGENXBIO, Solid Biosciences Inc., Lexeo Therapeutics, Spark Therapeutics, Xalud Therapeutics, uniQure, Ultragenyx Pharmaceutical, Nanoscope Therapeutics, among others. About DelveInsight DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve . Contact Us Shruti Thakur [email protected] +14699457679 Logo: SOURCE DelveInsight Business Research, LLP WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED