Retinitis Pigmentosa - Market Insight, Epidemiology and Market Forecast - 2034

Key Highlights

• Retinitis pigmentosa is the most common IRD (Inherited Retinal Disease), affecting nearly more than 1.5 million patients worldwide, and is classified as a rare disease.
• The total prevalent cases in the 7MM were ~274,000 in 2023. These cases are expected to grow during the forecast period.
• According to various studies, nonsyndromic retinitis pigmentosa accounts for ~65% of retinitis pigmentosa. Further autosomal recessive accounts for ~10-15%, autosomal dominant accounts for 20-25%, and XLRP is the rarest form of nonsyndromic retinitis pigmentosa with early-onset and severe vision loss.
• In a molecular epidemiology study with nonsyndromic retinitis pigmentosa and usher syndrome, the most frequent disease-causing genes in ADRP probands were RHO and RP1. In XLRP cohort variants in RPGR accounted for most cases (~75%), followed by variants in RP2 and OFD1.
• The advent of Next-Generation Sequencing (NGS) marks a significant milestone in uncovering the genetic basis of retinitis pigmentosa. New diagnostic techniques facilitated by NGS allow for the detection of disease-associated genetic variants previously undetectable.
• Patients relies on off-label therapies that do not address retinitis pigmentosa’s root cause. Patients lacking the RPE65 mutation depend on supportive care, including vitamin supplements, sunlight protection, and visual aids.
• Currently, LUXTURNA is the only approved therapy for retinitis pigmentosa and is only authorized for the treatment of a small subpopulation of patients that have the RPE65 mutation.
• Optogenetics presents an innovative gene therapy overcoming the limitations of traditional approaches. It operates independently of specific genes and proves effective in late-stage diseases characterized by substantial photoreceptor loss.
• There are several companies that have advanced optogenetic retinal gene therapies into clinical trials including, GenSight Biologics (GS030), Bionic Sight (BS01), Nanoscope Therapeutics (MCO-010), and others.
• The clinical pipeline offers diverse drug types for every stage of retinitis pigmentosa treatment. Ultevursen is a unique RNA-based oligonucleotide that targets exon 13 of the USH2A gene, representing a distinctive approach in the pursuit of treating retinitis pigmentosa.
• The total market size of retinitis pigmentosa in the 7MM was ~USD 500 million in 2023, which is expected to grow significantly during the forecast period 2024-2034.

This report delivers an in-depth understanding of historical and forecasted epidemiology as well as the Retinitis Pigmentosa market trends in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

Retinitis Pigmentosa market report provides current treatment, emerging therapies, market share of individual therapies, and historical and forecasted 7MM Retinitis Pigmentosa market size from 2020 to 2034. The report also covers current Retinitis Pigmentosa treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market’s potential.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2020-2034

Retinitis Pigmentosa Understanding and Treatment Algorithm

Retinitis Pigmentosa Overview and Diagnosis

Retinitis pigmentosa (RP) refers to a group of inherited retinal disorders causing retinal degeneration and blindness. Retinitis pigmentosa is characterized by progressive bilateral degeneration of the rod and cone photoreceptors that leads to night blindness and progressive visual field defects, followed by a progressive decline in daylight central vision due to loss of function of the less-sensitive cone photoreceptors. It's often linked to genetic mutations, with over 44 identified genes. Inheritance can be recessive, dominant, or X-linked. About 50% of cases have unknown mutations. On the basis of clinical impact, the disease is further segmented into syndromic, non-syndromic, and Systemic retinitis pigmentosa, and on the basis of age of onset, the disease is segmented as early-onset retinitis pigmentosa and late-onset retinitis pigmentosa. Various clinical symptoms characterize retinitis pigmentosa (RP), including changes in the fundus appearance, the presence of dust-like particles in the vitreous, white dots deep within the retina, the occurrence of exudative vasculopathy (resembling Coats-like disease), and the manifestation of sector retinitis pigmentosa.

The diagnosis of RP is suspected in patients with poor night vision or family. It relies upon documentation of rod dysfunction as measured by dark adaptation or electroretinogram, progressive loss in photoreceptor function, loss of peripheral vision, and bilateral involvement. The most common findings on ocular examination are usually preserved visual acuity until late-stage disease and reduced visual fields. Differential diagnosis should rule out acquired retinal degenerations (such as peripheral reticular pigmentary degeneration), infectious and inflammatory retinopathy (rubella, syphilis, cytomegalovirus infection, herpes simplex, posterior uveitis), retinopathies associated with cancer and trauma with intraocular foreign body, grouped pigmentation of the retina (bear-track), retinal detachment resolution, pigmented paravenous retinochoroidal atrophy and vitamin A deficiency should also be taken in consideration, as they manifest mainly with night blindness.

Retinitis Pigmentosa Treatment

With only one approved therapies like LUXURNA, prompting exploration of off-label and symptomatic treatments, managing this progressive condition involves best supportive care, genetic counseling, and adaptive strategies. The potential therapies in the pipeline, including AGTC-501, Botaretigene sparoparvovec, MCO-010, GS030, ADX-2191, jCell, EA-2353, and others, are advancing through different stages of clinical development, offering promising avenues for effective treatments.

Retinitis Pigmentosa Epidemiology

The Retinitis Pigmentosa epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• In the US, the total number of prevalent cases of retinitis pigmentosa were ~113,000 in 2023.
• Nonsyndromic retinitis pigmentosa is more prevalent than syndromic retinitis pigmentosa with ~65% cases of total retinitis pigmentosa.
• X-linked retinitis pigmentosa in the US acoounted for ~16,000 prevalent cases in 2023.
• Germany has the most cases among EU4 and UK, whereas the UK has the fewest.
• RPE65-linked IRD account for about 3-16% of Leber congenital amaurosis and approximately 0.6-6% of retinitis pigmentosa.

Retinitis Pigmentosa Drug Chapters

The drug chapter segment of the Retinitis Pigmentosa report encloses a detailed analysis of Retinitis Pigmentosa marketed drugs and late-stage (Phase III and Phase II) pipeline drugs. It also deep dives into the Retinitis Pigmentosa pivotal clinical trial details, recent and expected market approvals, patent details, the latest news, and recent deals and collaborations.

Marketed Drugs

LUXTURNA: Sparks Therapeutics (Roche)/Novartis

LUXTURNA (AAV2-hRPE65v2; voretigene neparvovec), known as voretigene neparvovec-rzyl, is 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. It provides a copy of the RPE65 gene to act in place of the mutated RPE65 gene. This working gene can restore vision and improve sight. The drug is administered as a subretinal single injection below the retina in patients who have confirmed RPE65 mutations and viable retinal cells. The drug was developed and commercialized in the US by Spark Therapeutics. In Europe, Novartis is currently marketing LUXTURNA as per a licensing agreement covering the development, registration, and commercialization rights of LUXTURNA in markets outside the US.

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.

Emerging Drugs

Botaretigene sparoparvovec: Johnson & Johnson Innovative Medicine /MeiraGTx

Botaretigene sparoparvovec (bota-vec) is designed to treat the most common form of X-linked retinitis pigmentosa (XLRP) caused by mutations in the eye-specific form of the RPGR gene called RPGR open reading frame 15 (RPGR ORF15). Both rods and cones photoreceptors require RPGR ORF15 to function.The Phase I/II clinical trial of bota-vec in adult and pediatric patients is complete, and the Phase III Lumeos clinical trial completed enrollment in 2023. AAV-RPGR has received Fast Track and Orphan Drug designations from the FDA, as well as PRIME, ATMP, and Orphan Medicinal Product designations from the EMA. Currently, the drug is in the Phase III stage of its development for the treatment of X-linked Retinitis Pigmentosa.

In December 2023, MeiraGTx Holdings announced an asset purchase agreement with Janssen Pharmaceuticals, Inc. (J&J), a Johnson & Johnson company, for the remaining interests in bota-vec for the treatment of XLRP, as well as a commercial supply agreement and a technology transfer agreement for bota-vec manufacturing. Janssen Pharmaceuticals is now called Johnson & Johnson Innovative Medicine.

MCO-010: Nanoscope Therapeutics

Nanoscope’s MCO-010 gene therapy utilizes a convenient and well-established intraocular injection for delivery of a gene that encodes for the ambient light-sensitive MCO protein into retinal cells. These therapies are intended to enable retinal cells to detect light so that patients with retinitis pigmentosa or Stargardt disease may see again. MCO-010, is in clinical development for retinitis pigmentosa (RP) and Stargardt disease, which are two rare retinal diseases that cause blindness. MCO-010, recently reported topline results from the RESTORE Phase IIb multicenter, randomized, double-masked, sham-controlled clinical trial in the US for retinitis pigmentosa. The company has also recently completed the Phase II STARLIGHT trial of MCO-010 therapy in patients with Stargardt disease. MCO-010 has received FDA fast track designations and FDA orphan drug designations for both retinitis pigmentosa and Stargardt disease.

Drug Class Insights

The existing Retinitis Pigmentosa treatment is mainly dominated by gene therapies for mutation. Optogenetics presents an innovative gene therapy overcoming the limitations of traditional approaches. It operates independently of specific genes and proves effective in late-stage diseases characterized by substantial photoreceptor loss.

Retinitis pigmentosa is basically an inherited disease leading to a degeneration of the photoreceptor cells, disrupting the normal physiology of phototransduction. This may be autosomal dominant, autosomal recessive, X-linked, or maternally acquired. Mutations in pre-mRNA splicing cause autosomal dominant retinitis pigmentosa. Autosomal recessive RP is caused when two unaffected individuals who are carriers of the same RP-inducing gene in diallelic form can produce offspring with RP. X-linked RP is identified with mutations of six genes most commonly occurring at specific loci in the RPGR and RP2 genes. These multiple mutations are produced, causing the degeneration of photoreceptor cells. About 150 mutations have been identified to date. The mutations of various genes disrupt the normal pathway in various methods depending upon the misfolded proteins that are produced.

Retinitis Pigmentosa Market Outlook

As more targetable mutations are discovered, and new targeted drugs are developed, patients and Opthamologists will have an expanding array of treatment options. Given the rapid pace of drug approvals, it is important to pause and ensure sufficient data supports the use of specific agents in the appropriate treatment settings, including adjuvant, consolidation, first-line, or subsequent therapy.

Currently, LUXTURNA (voretigene neparvovec) is the only approved therapy for retinitis pigmentosa and is only authorized for the treatment of a small subpopulation of patients that have the RPE65 mutation. LUXTURNA gene therapy is designed for both adult and pediatric patients experiencing vision loss from Inherited Retinal Disease (IRD). Companies that focus on both adult and pediatric patients are likely to have a larger patient pool. Some key players pursuing this approach include Beacon Therapeutics (AGTC-501), MeiraGTx/Janssen Research & Development (Botaretigene sparoparvovec), 4D Molecular Therapeutics (4D-125), ProQR Therapeutics/Laboratoires Thea (Ultevursen), Coave Therapeutics (CTx-PDE6b), and Ocugen (OCU400).

There is currently no standard treatment for patients without the RPE65 mutation; therefore, most patients are limited to the best supportive care, including reliance on vitamin supplements, protection from sunlight, and visual aids. There can be potential market for supportive care for treatment of retinitis pigmentosa.

• The total market size in the US for retinitis pigmentosa was estimated to be nearly USD 260 million in 2023, which is expected to increase due to the launch of novel emerging therapies.
• In EU4 and the UK, Germany accounted for the largest market size in 2023, accounted for ~28% of total EU4 and the UK market size.
• In 2023, the total market size of Japan was ~USD 20 million, which is expected to increase significantly during the forecast period.

Retinitis Pigmentosa Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2020-2034, which depends on the competitive landscape, safety, efficacy data, and order of entry. It is important to understand that the key players evaluating their novel therapies in the pivotal and confirmatory trials should remain vigilant when selecting appropriate comparators to stand the greatest chance of a positive opinion from regulatory bodies, leading to approval, smooth launch, and rapid uptake.

The potential therapies in the pipeline, including AGTC-501, Botaretigene sparoparvovec, MCO-010, GS030, ADX-2191, jCell, EA-2353, and others, are advancing through different stages of clinical development, offering promising avenues for effective treatments.Gene and cell therapies are pivotal for the treatment of retinitis pigmentosa, with diverse targets like RHO, USH2A, and RPGR. USH2A emerges as a prominent focus, with two oligonucleotide candidates shaping the retinitis pigmentosa pipeline. LUXTURNA gene therapy is designed for both adult and pediatric patients experiencing vision loss from Inherited Retinal Disease (IRD). In the pediatric realm, several emerging players, including AGTC-501, Botaretigene sparoparvovec, 4D-125, CTx-PDE6b, and OCU400, may pose potential competition to LUXTURNA in the future . While major players focus on AAV-based gene therapy, a few pioneers have shifted focus to the development of small molecules, such as Aldeyra Therapeutics’ ADX-2191 and Endogena Therapeutics’ EA-2353 serve as examples of this strategic shift.

Retinitis Pigmentosa Activities

The report provides insights into therapeutic candidates in Phase III and II. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for Retinitis Pigmentosa emerging therapies.

KOL Views

To keep up with the real-world scenario in current and emerging market trends, we take opinions from Key Industry leaders working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on the evolving treatment landscape, patient reliance on conventional therapies, patient’s therapy switching acceptability, and drug uptake along with challenges related to accessibility, including Medical/scientific writers, Opthamologists, Professors, Chairman of the Department of Ophthalmology, director of clinical trial services at InformedDNA, and Others.

The analysts connected with 40+ KOLs to gather insights; however, interviews were conducted with 18+ KOLs in the 7MM. Centers such as School of the Johns Hopkins University Wilmer Eye Institute, US, University of Oxford, UK, University of California were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or Retinitis Pigmentosa market trends.

Qualitative Analysis

We perform qualitative and market Intelligence analysis using various approaches, such as SWOT analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of gaps in disease diagnosis, patient awareness, physician acceptability, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

Market Access and Reimbursement

The reimbursement landscape for gene therapies in ophthalmology, exemplified by treatments like LUXTURNA for inherited retinal dystrophies, is characterized by intricacies and variations across different countries. With high initial costs associated with the development and manufacturing of gene therapies, reimbursement models often adopt a value-based approach, considering the long-term benefits and potential cost savings compared to traditional treatments. Health Technology Assessments (HTAs) are commonly employed to evaluate clinical effectiveness, cost-effectiveness, and overall value, taking into account factors like disease severity and the availability of alternative treatments.

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of Retinitis Pigmentosa, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and treatment guidelines.
• Additionally, an all-inclusive account of the current and emerging therapies, along with the elaborative profiles of late-stage and prominent therapies, will impact the current treatment landscape.
• A detailed review of the Retinitis Pigmentosa market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help shape and drive the 7MM Retinitis Pigmentosa Market.

Retinitis Pigmentosa Report Insights

• Patient Population
• Therapeutic Approaches
• Retinitis Pigmentosa Pipeline Analysis
• Retinitis Pigmentosa Market Size and Trends
• Existing and future Market Opportunity

Retinitis Pigmentosa Report Key Strengths

• 11 Years Forecast
• 7MM Coverage
• Retinitis Pigmentosa Epidemiology Segmentation
• Key Cross Competition
• Conjoint analysis
• Drugs Uptake and Key Market Forecast Assumptions

Retinitis Pigmentosa Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs

• What is the historical and forecasted Retinitis Pigmentosa patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• What was the Retinitis Pigmentosa total market size, the market size by therapies, market share (%) distribution in 2023, and what would it look like in 2034? What are the contributing factors for this growth?
• What will be the impact of LUXTURNA’S expected patent expiry?
• What are the pricing variations among different geographies for approved and off-label therapies?
• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?
• Although multiple expert guidelines recommend testing for targetable mutations prior to therapy initiation, why do barriers to testing remain high?
• What are the current and emerging options for treating Retinitis Pigmentosa?
• How many companies are developing therapies to treat Retinitis Pigmentosa?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitations of existing therapies?
• Patient acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of expensive, recently approved therapies?

Reasons to buy

• The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the Retinitis Pigmentosa Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• Understand the existing market opportunities in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Highlights of access and reimbursement policies of approved therapies, barriers to accessibility of expensive off-label therapies, and patient assistance programs.
• To understand Key Opinion Leaders’ perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.