Unraveling the Shifting Rare Eye Diseases Market Landscape: Analysis of Retinoblastoma Market, Retinitis Pigmentosa Market, Limbal Stem Cell Deficiency Market, Leber Hereditary Optic Neuropathy Market, and Stargardt Disease Market

Several rare eye conditions are genetically influenced, which complicates the quest for effective treatments. Despite affecting only a small portion of the population, these rare eye diseases can have a profound impact on those affected. The paucity of precise diagnostic information and subsequent treatment options represents a significant impediment for both patients and healthcare providers.

LAS VEGAS, Nov. 16, 2023 /PRNewswire/ — The realm of treating rare eye conditions is a field brimming with exciting opportunities. Technological advancements and scientific breakthroughs have paved the way for innovative approaches to diagnose and manage these conditions, offering new hope to patients. Emerging therapies, such as gene editing, stem cell research, and personalized medicine, hold immense promise in addressing previously untreatable rare eye diseases. Furthermore, the convergence of artificial intelligence and healthcare has facilitated earlier and more accurate diagnoses, leading to tailored treatment plans. Collaborations between medical professionals, researchers, and pharmaceutical companies continue to drive progress, enhancing our understanding of these conditions and providing avenues for novel therapies. With an increased focus on precision medicine and cutting-edge technologies, the landscape for treating rare eye conditions is evolving rapidly, opening doors for transformative interventions and improved quality of life for patients.

DelveInsight has expertise in the rare disease market with an experienced team handling the rare disease domain proficiently. DelveInsight has recently released a series of epidemiology-based market reports on rare eye diseases including Retinoblastoma, Retinitis Pigmentosa, Limbal Stem Cell Deficiency, Leber Hereditary Optic Neuropathy (LHON), and Stargardt Disease. These reports include a comprehensive understanding of current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted market size from 2019 to 2032  segmented into 7MM [the United States, the EU-4 (Italy, Spain, France, and Germany), the United Kingdom, and Japan].

Additionally, the reports feature an examination of prominent companies working with their lead candidates in different stages of clinical development. Let’s deep dive into the assessment of these rare eye disease markets individually.

Retinoblastoma Market

Retinoblastoma, a rare form of childhood cancer, typically emerges in children under the age of 5. Each year, around 200 to 300 children receive a diagnosis of this condition. It affects both boys and girls equally, showing no gender preference. While the majority of cases involve one eye (unilateral), approximately 25% of cases affect both eyes (bilateral). Retinoblastoma occurs in two main forms: heritable and non-heritable. The heritable form, which is bilateral, is typically diagnosed at a younger age. In most instances, retinoblastoma is non-heritable and develops spontaneously without a clear cause.

The approach to treating retinoblastoma varies based on the disease’s stage in each patient. The patient’s healthcare team will consider whether the cancer is confined to the eye (intraocular retinoblastoma) or has spread to other body parts (extraocular retinoblastoma). Various therapeutic options are available, including local and systemic chemotherapy, cryotherapy, laser photoablation, thermotherapy, radiotherapy, and surgical removal of the affected eye (enucleation).

As per DelveInsight analysis, the retinoblastoma market is expected to grow significantly by 2032. The prevalence and diagnosis of retinoblastoma play a significant role. As early detection rates improve, there is an increasing need for effective treatment options. Furthermore, advancements in medical research and technology contribute to the development of innovative therapies and diagnostic tools. On the economic front, the cost of treatment, insurance coverage, and accessibility to healthcare services are crucial factors affecting the market. Additionally, the involvement of pharmaceutical companies, non-profit organizations, and government initiatives in funding research and raising awareness about retinoblastoma further shapes the retinoblastoma market landscape. 

Retinoblastoma Pipeline Therapies and Companies 

• VCN-01: VCN Biosciences
• Episcleral Topotecan: Targeted Therapy Technologies LLC

Dive deeper for rich insights into the Retinoblastoma Clinical Trials

Retinitis Pigmentosa Market

Retinitis pigmentosa encompasses a group of inherited eye disorders that affect the retina, the light-sensitive tissue at the back of the eye. RP leads to the gradual degeneration of photoreceptor cells, responsible for light detection. Initially, it primarily affects rod cells, leading to a subtype known as rod-cone dystrophy, often causing night vision difficulties. According to DelveInsight’s analysis for 2022, the estimated prevalent cases of retinitis pigmentosa in the 7MM reached 260K. These diagnosed cases can be classified into three main categories: Syndromic and Systemic retinitis pigmentosa, Non-syndromic retinitis pigmentosa, and other or unidentified retinitis pigmentosa variations.

Luxturna stands out as the exclusive sanctioned treatment for an exceptionally rare subtype of retinitis pigmentosa, accessible in both the United States and European markets. It holds the potential to arrest the progression of vision degeneration and, in some instances, even partially restore vision in individuals with a biallelic mutation in their RPE65 gene, which can manifest as either retinitis pigmentosa or Leber congenital amaurosis. Although the patient population with this specific mutation is limited, Luxturna’s demonstrated medical efficacy and its successful transition into a pharmaceutical product underscore the substantial potential of gene therapy in the treatment of various other forms of retinitis pigmentosa in the future.

According to DelveInsight, the total market size for retinitis pigmentosa in the 7MM was found to be approximately USD 400 million in 2022. A significant portion of this market’s revenue, nearly half, was attributed to approved therapies, with Luxturna being a prominent contributor. Additionally, the future of retinitis pigmentosa treatments appears promising, with several clinical trials on gene therapy and stem cell therapy showing favorable safety profiles and initial signs of efficacy. These encouraging results are driving further research into the fundamental aspects of retinal physiology and the mechanisms for preventing and reversing inherited retinal degeneration.

Retinitis Pigmentosa Pipeline Therapies and Companies 

• CTx-PDE6b: Coave Therapeutics
• AAV5-RPGR: Janssen (Johnson & Johnson) & MEIRAGTx
• EA-2353: Endogena Therapeutics

For a deeper understanding of the retinitis pigmentosa market landscape, explore the Retinitis Pigmentosa Market Outlook

Limbal Stem Cell Deficiency (LSCD) Market

Limbal stem cell deficiency (LSCD) is a condition that affects the surface of the eye, resulting from a decrease in either the number or functionality of corneal epithelial stem/progenitor cells. This reduction leads to an inability to maintain the normal balance of the corneal epithelium. This condition is characterized by conjunctivalization, where the typical corneal epithelium is replaced by conjunctival epithelium. Additionally, individuals with LSCD may experience ongoing or recurrent epithelial defects, sometimes accompanied by neovascularization, inflammation of the ocular surface, and scarring. In 2021, DelveInsight estimated that the highest number of LSCD cases (approximately 100K) was reported in the United States among the seven major markets.

At present, the exclusive treatment authorized for patients with Limbal Stem Cell Deficiency (LSCD) is HOLOCLAR. HOLOCLAR consists of autologous human corneal epithelial cells containing stem cells. Another alternative is OCU-ORAL, which utilizes epithelial cell sheets derived from the patient’s own oral mucosa. HOLOCLAR is commercially available in European Union countries and is specifically recommended for adult patients with moderate-to-severe LSCD resulting from various factors, including chemical eye injuries. This groundbreaking therapy product falls under the category of ’tissue-engineered products.’ It involves the collection of limbal cells from the patient, followed by laboratory cultivation to repair the damaged corneal surface.

According to DelveInsight’s analysis, it is projected that the LSCD market will experience substantial growth from USD 2.7 billion in 2021 over the next decade, with a significant Compound Annual Growth Rate (CAGR) from 2023 to 2032. This growth can be primarily attributed to the increasing prevalence of the condition and the expected introduction of innovative therapies during the forecast period (2023–2032).

Limbal Stem Cell Deficiency Pipeline Therapies and Companies 

• LSCD101: CLIPS BnC Co., Ltd
• LSC2: RHEACELL GmbH & Co. KG

To gain a deeper understanding of the LSCD market, be sure to explore the LSCD Market Outlook

Leber Hereditary Optic Neuropathy (LHON) Market

Leber’s hereditary optic neuropathy (LHON) is a distinct subset within the category of ‘inherited optic atrophies’ and ‘hereditary optic neuropathies.’ This condition is characterized by dysfunction of the optic nerve due to specific point mutations in mitochondrial DNA, and it exhibits a non-Mendelian pattern of inheritance. LHON is primarily associated with three mitochondrial base pair mutations: G11778A (guanine to adenine at position 11778), T14484C (tyrosine to cytosine), and G3460A. These mutations predominantly impact genes within respiratory chain complex I, with a focus on mitochondrial genes ND1, ND4, and ND6, among others. According to data from the American Academy of Ophthalmology, the G11778A mutation is the most prevalent, accounting for approximately 70% of cases in Northern European populations and up to 90% in Asian populations. It is linked to more severe disease and a lower likelihood of significant visual recovery.

Raxone (idebenone) is currently the only drug approved for the treatment of LHON in the European Union. Other therapeutic approaches, such as brimonidine, nutritional supplements, and ubiquinone analogs, are being researched. Alternative approaches, such as the use of steroids and immunosuppressants such as cyclosporine A, are also being investigated for LHON treatment. One particularly intriguing path is that of gene therapy.

According to DelveInsight’s estimates, the LHON market in 7MM is expected to show positive growth, during the forecast period (2023–2032). With advancements in genetic testing and diagnostics, there has been an increased awareness and understanding of LHON, resulting in earlier diagnosis and intervention. This has driven pharmaceutical companies to invest in research and development for potential treatments. Additionally, patient advocacy groups and support networks have grown, facilitating information sharing and connecting affected individuals. The market for LHON therapies is relatively niche, but it is experiencing a surge in interest and investment as stakeholders aim to improve the quality of life for those living with this challenging condition. The LHON market dynamics reflect the broader trend of personalized medicine and the increasing focus on rare genetic diseases within the healthcare industry.

Leber Hereditary Optic Neuropathy Pipeline Therapies and Companies 

• GS010 – LUMEVOQ: GenSight Biologics
• NFS-01 (NR082, rAAV-ND4) and NFS-02 (rAAV-ND1) : Neurophth

Discover more about LHON drugs in development @ LHON Clinical Trials

Stargardt Disease Market

Stargardt disease, also known as Stargardt macular dystrophy, was first identified by the German ophthalmologist Karl Stargardt in 1901. It is also referred to as juvenile macular degeneration or fundus flavimaculatus. This condition is classified as one of the rare retinal disorders with an autosomal recessive inheritance pattern. The primary cause of Stargardt disease is genetic mutations within the ABCA4 gene. According to the American Institute of Ophthalmology (2023), Stargardt disease constitutes approximately 7% of all cases of retinal degeneration, affecting roughly 1 in 10,000 individuals.

Currently, there are no approved treatments for Stargardt disease, and existing therapies do not tackle its underlying cause. Researchers are actively exploring three key avenues for potential intervention: clinical trials involving stem cell therapy, gene replacement therapy, and pharmacological approaches. In addition, some ophthalmologists recommend protective measures, such as wearing sunglasses and hats in bright light to reduce lipofuscin accumulation. It’s also advised to avoid cigarette smoking and exposure to secondhand smoke. High-dose vitamin A supplements, exceeding the recommended daily allowance, may potentially exacerbate vision loss based on animal studies, making them inadvisable without proper medical supervision.

According to DelveInsight’s estimates, the Stargardt disease market in 7MM is expected to show positive growth, during the forecast period (2023–2032). The market for Stargardt disease therapies has been marked by a surge in research and development activities, driven by advancements in genetic and molecular understanding of the condition. This has led to a promising pipeline of potential treatments, including gene therapies and small molecules, aimed at slowing or halting the progression of the disease. Furthermore, patient advocacy groups and increased awareness have brought Stargardt disease into sharper focus, potentially increasing demand for emerging treatments.

Stargardt Disease Pipeline Therapies and Companies 

• Emixustat: Kubota Pharmaceuticals
• Tinlarebant/LBS-008: Belite Bio
• ASP7317: Astellas Pharma
• Avacincaptadpegol (ACP): Astellas Pharma
• ALK-001: Alkeus Pharmaceuticals

To access a complete analysis of the Stargardt disease market, visit Stargardt Disease Market Assessment

Challenges in Treating Rare Eye Diseases

The scarcity of these eye conditions means that pharmaceutical companies typically don’t prioritize research and development, causing the cost of drugs and interventions to skyrocket. Consequently, patients and their families often find themselves shouldering the out-of-pocket expenses for treatments that insurance doesn’t cover. The emotional impact of rare eye diseases can’t be underestimated, as patients frequently contend with a lack of support and understanding from their local communities, along with feelings of isolation and uncertainty. These difficulties highlight the urgent requirement for heightened awareness, research, and support systems for those affected by rare eye diseases.

Other Trending Rare Diseases Reports

Choroideremia Market

Choroideremia Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key choroideremia companies, including Spark Therapeutics, Molecular Therapeutics, Curative Biotechnology, Ray Therapeutics, among others.

Cone-Rod Dystrophy Market

Cone-Rod Dystrophy Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key cone-rod dystrophy companies, including GlaxoSmithKline Plc., Johnson & Johnson, Sanofi, Pfizer Inc., Novartis AG, Abbott Laboratories, Sunovion Pharmaceuticals, Cephalon,  DSM, Amway, Vitamin Shoppe, Intas Pharmaceuticals Limited, Sun Pharmaceuticals Ltd., Emcure Pharmaceuticals Limited,  Nutrilite, NutraScience Labs, among others.

Leber Congenital Amaurosis Market

Leber Congenital Amaurosis Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key Leber congenital amaurosis companies, including ProQR Therapeutics, Editas Medicine, Atsena Therapeutics Inc., Applied Genetic Technologies Corporation, IVERIC bio, MeiraGTx, among others.

Rare Disease Consulting Services

Delveinsight’s comprehensive rare disease consulting services encompass rare disease consulting, epidemiology-based market assessment, and primary research projects aimed at obtaining elusive data through their esteemed KOL panel. 

About DelveInsight

DelveInsight is a leading healthcare-focused market research and consulting firm that provides clients with high-quality market intelligence and analysis to support informed business decisions. Rare diseases are DelveInsight’s forte with more than 200 rare disease reports in the repository. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve.

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SOURCE DelveInsight Business Research, LLP