본 보고서는 안구 희귀 질환 유전자 치료에 대한 상세한 분석을 제공하고 진단 사례 수, 치료 사례 수 등의 과거 및 미래의 역학 데이터를 제시하고 있습니다. 또한 진단 과정, 처방 패턴, 의사의 견해, 시장 접근, 치료 옵션, 시장 전망 동향을 미국, EU 4개국(독일, 프랑스, 이탈리아, 스페인), 영국, 일본의 주요 7개국 시장에 걸쳐 2020-2034년 기간으로 분석했습니다. 또한 기존의 치료실태와 미충족 수요(Unmet Needs)를 종합적으로 평가하여 시장의 잠재력과 새로운 사업 기회를 명확히 하고 있습니다.
DelveInsight's comprehensive report titled "Gene Therapy for Ocular Rare Disease - Market Insights, Epidemiology, and Market Forecast - 2034" offers a detailed analysis of gene therapy for ocular rare disease. The report presents historical and projected epidemiological data covering type- specific prevalent cases of ocular rare disease, total diagnosed prevalent cases of ocular rare disease and total treated cases of ocular rare disease. In addition to epidemiology, the market report encompasses various aspects related to the patient population. These aspects include the diagnosis process, prescription patterns, physician perspectives, market accessibility, treatment options, and prospective developments in the market across seven major markets: the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan, spanning from 2020 to 2034.
The report analyzes the existing treatment practices and unmet medical requirements gene therapy for ocular rare disease. It evaluates the market potential and identifies potential business prospects for enhancing therapies or interventions. This valuable information enables stakeholders to make well-informed decisions regarding product development and strategic planning for the market.
Gene Therapy for Ocular Rare Disease Overview
Gene therapies for ocular rare diseases represent a transformative approach targeting the genetic defects that cause progressive vision loss and blindness. These therapies are designed to address inherited retinal disorders such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease by correcting or compensating for faulty genes within the eye. Clinical manifestations vary from early symptoms like night blindness, light sensitivity, or loss of peripheral vision to advanced complications including severe visual impairment or complete blindness. While each disorder arises from distinct genetic mechanisms, common pathways such as photoreceptor degeneration, impaired visual cycle function, and retinal cell death drive disease progression. Gene therapies aim to intervene at the molecular level, offering the potential for durable, vision-preserving effects. Early genetic diagnosis and timely intervention are critical, as untreated or progressive cases may result in irreversible blindness and a profound impact on quality of life.
Gene Therapy for Ocular Rare Disease Diagnosis and Treatment Overview
Gene therapies for ocular rare diseases are evaluated through a comprehensive clinical assessment, supported by detailed patient history, ophthalmic examination, and genetic testing. While no single test can determine eligibility for all patients, molecular diagnostics such as next-generation sequencing are essential for identifying disease-causing mutations and guiding therapeutic targeting. Advanced imaging modalities, including Optical Coherence Tomography (OCT), fundus auto fluorescence, and Electroretinography (ERG), provide critical insights into retinal structure and function, while visual field testing helps quantify disease severity. Ultimately, precise genetic characterization remains the cornerstone for determining suitability and optimizing outcomes with gene therapy in inherited retinal disorders such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease.
Gene therapy for ocular rare diseases is tailored to the specific mutation, disease subtype, and clinical severity, recognizing that no single approach can address all patients. These therapies aim to correct or compensate for faulty genes driving photoreceptor degeneration and vision loss, with the goal of preserving or restoring visual function and preventing progression to blindness. Personalized treatment strategies are essential, developed through collaboration between patients and clinicians and guided by genetic profiling, retinal imaging, and functional assessments. Investigational approaches include adeno-associated virus vectors to deliver functional genes, optogenetics to reactivate dormant photoreceptors, and gene editing to repair pathogenic mutations. Applied individually or in combination, these strategies hold promise to preserve vision, limit complications, and deliver durable, disease-modifying benefits far beyond conventional management.
The epidemiology section of the gene therapy for ocular rare disease market report offers information on the patient populations, including historical and projected trends for each of the seven major markets. Examining key opinion leader views from physicians or clinical experts can assist in identifying the reasons behind historical and projected trends. The diagnosed patient pool, their trends, and the underlying assumptions are all included in this section of the report.
This section also presents the total prevalence rate of ocular rare disease, supported by relevant tables and graphs to provide a clear and concise understanding of the data. Additionally, the report discloses the assumptions made during the analysis, ensuring data interpretation and presentation transparency. This epidemiological data is valuable for understanding the disease burden and its impact on the patient population across various regions.
Key Findings
The gene therapy for ocular rare disease market is further expected to increase by the major drivers, such as the rising prevalent population, technological advancements, and upcoming therapies in the forecast period (2025-2034).
Gene therapy for ocular rare diseases is focused on correcting the genetic mutations that drive progressive vision loss, with the goal of preserving or restoring retinal function and preventing blindness. Current investigational approaches include adeno-associated virus-based vectors to deliver functional gene copies, gene-silencing methods to suppress toxic protein accumulation, and gene-editing platforms aimed at repairing pathogenic mutations. These strategies are being explored across inherited retinal disorders such as Leber congenital amaurosis, retinitis pigmentosa, and Stargardt disease, offering the potential for durable, disease-modifying benefits. Emerging candidates continue to broaden the therapeutic landscape, underscoring the promise of precision medicine approaches that extend beyond conventional supportive care. Complementary measures such as visual rehabilitation, assistive technologies, and regular monitoring remain essential to optimize patient outcomes alongside gene therapy. Together, these advances mark a paradigm shift in ocular rare disease management, moving from symptom control toward interventions that target disease at its genetic root.
With ongoing research and continued dedication, the future holds promise for even more effective treatments and, ultimately, a potential cure for this challenging condition. According to DelveInsight, the gene therapy for ocular rare disease market in the 7MM is expected to change significantly during the forecast period (2025-2034).
Marketed Drugs
LUXTURNA (voretigene neparvovec-rzyl): Spark Therapeutics/ Novartis
LUXTURNA (voretigene neparvovec-rzyl), developed by Spark Therapeutics, is an US Food and Drug Administration (FDA)- and European Medicines Agency (EMA)-approved gene therapy for inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations. Using an adeno-associated virus vector to deliver a functional copy of the RPE65 gene directly to retinal cells, it is designed to restore the visual cycle, improve functional vision, and provide durable, disease-modifying benefits beyond conventional management options.
ENCELTO (revakinagene taroretcel-lwey): Neurotech Pharmaceuticals
ENCELTO (revakinagene taroretcel-lwey), developed by Neurotech Pharmaceuticals, is an FDA-approved gene therapy for macular telangiectasia type 2 (MacTel). Utilizing an encapsulated cell therapy platform to deliver a sustained release of therapeutic proteins directly to the retina, it is designed to preserve photoreceptors, slow disease progression, and provide durable, disease-modifying benefits beyond conventional management options.
Emerging Drugs
MCO-010: Nanoscope/Verana Health
MCO-010, developed by Nanoscope Therapeutics in collaboration with Verana Health, is an investigational gene therapy for IRD such as retinitis pigmentosa and Stargardt disease. Using an optogenetic adeno-associated virus vector to deliver a gene encoding a light-sensitive protein to retinal cells, it is designed to re-sensitize dormant photoreceptors, restore visual function, and provide durable, disease-modifying benefits beyond conventional management options.
SPVN06: SparingVision
SPVN06 is an investigational gene therapy being studied for the treatment of IRD caused by photoreceptor degeneration. Delivered using an adeno-associated virus vector, it is designed to preserve cone function and protect remaining retinal cells, directly addressing the underlying cause of vision loss rather than just managing symptoms. This targeted approach has the potential to slow or halt disease progression, maintain visual function, and significantly improve long-term patient outcomes, representing a shift toward durable, disease-modifying treatment strategies in ocular rare diseases.
OCU400: Ocugen
OCU400, developed by Ocugen, is an investigational gene therapy for the treatment of IRD. It utilizes an adeno-associated virus (AAV) vector to deliver a functional copy of the NR2E3 gene, aiming to regulate multiple retinal pathways and restore homeostasis in degenerating photoreceptors. This targeted, mechanism-based approach is designed to provide durable, disease-modifying benefits, offering a transformative alternative to conventional symptomatic treatments.
Gene Therapy for Ocular Rare Disease Market Segmentation
DelveInsight's "Gene Therapy for Ocular Rare Disease - Market Insights, Epidemiology, and Market Forecast - 2034" report provides a detailed outlook of the current and future gene therapies of ocular rare disease market, segmented within countries, by therapies, and by classes. Further, the market of each region is then segmented by each therapy to provide a detailed view of the current and future market share of all therapies.
Gene Therapy for Ocular Rare Disease Market Size by Countries
The gene therapy for ocular rare disease market size is assessed separately for various countries, including the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan. In 2024, the United States held a significant share of the overall 7MM (Seven Major Markets) gene therapy for ocular rare disease market, primarily attributed to the country's higher prevalence of the condition and the elevated cost of the available treatments. This dominance is projected to persist, especially with the potential early introduction of new products.
This section focuses on the sales uptake of potential gene therapy for ocular rare disease that have recently been launched or are anticipated to be launched in the gene therapy for ocular rare disease market between 2025 and 2034. It estimates the market penetration of gene therapy for ocular rare disease for a given country, examining their impact within and across classes and segments. It also touches upon the financial and regulatory decisions contributing to the probability of success (PoS) of the drugs in the gene therapy for ocular rare disease market.
The emerging gene therapy for ocular rare disease are analyzed based on various attributes such as efficacy and safety in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the gene therapy for ocular rare disease market.
Gene Therapy for Ocular Rare Disease Market Access and Reimbursement
DelveInsight's "Gene Therapy for Ocular Rare Disease - Market Insights, Epidemiology, and Market Forecast - 2034" report provides a descriptive overview of the market access and reimbursement scenario of gene therapy for ocular rare disease. This section includes a detailed analysis of the country-wise healthcare system for each therapy, enlightening the market access, reimbursement policies, and health technology assessments.
KOL Views
To keep up with current gene therapy for ocular rare disease market trends and to fill gaps in secondary findings, we interview KOLs and SMEs' working in the gene therapy for ocular rare disease domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or gene therapy for ocular rare disease market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the gene therapy for ocular rare disease unmet needs.
Gene Therapy for Ocular Rare Disease: KOL Insights
DelveInsight's analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as University of Texas MD Anderson Cancer Center, US; University Medical Center Hamburg-Eppendorf, Germany; PSL Research University, France; University of Campania "Luigi Vanvitelli, Italy; Complutense University, Spain; Liverpool John Moores University, UK; and Keio University School of Medicine, Japan; among others.
As per KOLs from the US, "Gene therapy is transforming the landscape of ocular rare diseases, many of which previously had no disease-modifying options. By introducing or repairing defective genes, these therapies go beyond managing symptoms like low vision to actually addressing the root cause of retinal degeneration. This represents a major step toward preserving functional vision and improving independence in patients who otherwise face inevitable blindness."
As per KOLs from Germany, "Ocular rare diseases, such as retinitis pigmentosa and inherited retinal dystrophies, are genetically diverse and often progressive from an early age. Gene therapies offer tailored interventions that can stabilize or even restore vision, which is particularly impactful for younger patients. The possibility of a one-time administration providing long-lasting benefit has the potential to drastically reduce the lifelong burden of vision impairment and related quality-of-life challenges."
As per KOLs from Japan, "The promise of gene therapy in ocular rare diseases lies in its ability to deliver durable, mechanism-based benefits rather than temporary visual aids. With platforms using adeno-associated viral vectors and modifier gene approaches, the goal is to protect retinal cells and restore photoreceptor function. If proven successful, these therapies could redefine the standard of care, shifting management from supportive measures toward curative solutions that preserve sight."
Competitive Intelligence Analysis
We conduct a Competitive and Market Intelligence analysis of the gene therapy for ocular rare disease. Market, utilizing various Competitive Intelligence tools such as SWOT analysis and Market entry strategies. The inclusion of these analyses is contingent upon data availability, ensuring a comprehensive and well-informed assessment of the market landscape and competitive dynamics.
Gene Therapy for Ocular Rare Disease Pipeline Development Activities
The report offers an analysis of therapeutic candidates in Phase II and III stages and examines companies involved in developing targeted therapeutics for gene therapy for ocular rare disease. It provides valuable insights into the advancements and progress of potential treatments in clinical development for this condition.
Pipeline Development Activities
The report covers information on collaborations, acquisition and merger, licensing, patent details, and other information for emerging gene therapy for ocular rare disease.
Treatment for ocular rare diseases involves multiple approaches aimed at preserving and restoring vision. Gene therapy targets and corrects defective genes responsible for vision loss, while cell-based and stem cell therapies replace or repair damaged retinal cells. Pharmacologic and biologic therapies, including neuroprotective and anti-angiogenic agents, help slow disease progression. Retinal prosthetics and visual restoration devices provide artificial vision in advanced cases, and low-vision rehabilitation supports daily functioning. Emerging innovations such as mRNA-based therapy, nanoparticle drug delivery, and optogenetic techniques are showing promise in enhancing long-term visual outcomes.
Managing ocular rare diseases presents several challenges due to their complex and heterogeneous nature. Limited understanding of disease mechanisms, delayed or incorrect diagnosis, and lack of standardized diagnostic criteria often hinder early detection. The rarity of these conditions leads to small patient populations, making it difficult to conduct large-scale clinical trials or generate robust evidence for therapies. Treatment accessibility is further restricted by high costs, regulatory barriers, and limited availability of specialized centers. Additionally, the progressive nature of many ocular rare diseases complicates long-term management, while psychological and social impacts add to the overall patient burden.
Key factors driving the growth of the ocular rare disease market with gene therapy include the rising recognition of genetic underpinnings in conditions such as retinitis pigmentosa, Stargardt disease, and macular telangiectasia type 2, as well as increasing awareness of the need for disease-modifying interventions. Advances in gene replacement, modifier, and optogenetic approaches are creating new opportunities to address the root causes of vision loss and deliver durable benefits. Growing adoption of precision medicine strategies, combined with expanding investment in rare and inherited retinal disorders, is further accelerating progress. Additionally, ongoing clinical trials, regulatory incentives, and strategic collaborations continue to fuel momentum by addressing unmet needs and redefining the treatment landscape for patients with blinding ocular diseases.
The Gene Therapies for Ocular Rare Diseases Market and Epidemiology Forecast Report provides clients with comprehensive insights into disease prevalence, genetic subtypes, and evolving therapeutic approaches. It enables identification of unmet clinical needs, evaluation of competitive landscapes, and strategic planning for pipeline development and market positioning. The report supports informed decision-making by analyzing regulatory incentives, clinical trial progress, and innovative gene therapy platforms, helping stakeholders optimize investments, partnerships, and access strategies in this rapidly advancing field of inherited retinal and rare ocular disorders.