Choroideremia Market

• Choroideremia is an X-linked vision disorder starting with childhood night blindness and progressing to peripheral vision loss and tunnel vision. Severity varies among individuals, with males primarily affected and female carriers typically having milder symptoms.
• Choroideremia involves widespread degeneration of all retinal layers, typically starting in childhood with atrophy of the retinal pigment epithelium, retina, and choroid.
• There is an increasing disease awareness and advancements in diagnostic technologies. Progress in gene therapies, novel small-molecule treatments, and ongoing clinical trials are fueling innovation. Continued research and development, along with improved patient diagnosis, will support sustained market expansion during this period.
• Currently, there are no approved therapies for choroideremia, highlighting a significant unmet medical need. Despite ongoing research and clinical trials exploring innovative approaches, effective treatments to halt or reverse the progressive vision loss caused by this genetic disorder remain unavailable, underscoring the urgency for continued scientific advancement in this area.
• Kiora Pharmaceuticals is developing KIO-301, an intravitreal molecular photoswitch that restores vision by activating surviving retinal cells with light. This innovative, non-gene therapy approach offers new hope for improving vision in patients with choroideremia and similar retinal diseases.
• Market growth in choroideremia is driven by advanced gene therapies and innovative treatment approaches targeting progressive vision loss. While supportive care and low-vision aids remain standard, the lack of curative options and the disease’s relentless progression highlight the need for more effective, long-lasting solutions.

DelveInsight’s comprehensive report titled “Choroideremia — Market Insights, Epidemiology, and Market Forecast – 2034” offers a detailed analysis of choroideremia. The report presents historical and projected epidemiological data covering total prevalent cases of Choroideremia, total diagnosed prevalent cases of Choroideremia, gender-specific cases of Choroideremia, and age-specific cases of Choroideremia. 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 in choroideremia. 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.

Choroideremia Overview

Choroideremia is a hereditary condition characterized by gradual vision loss caused by the deterioration of several retinal layers. These layers include the choroid, the retinal pigment epithelium (RPE), and the photoreceptors. Choroideremia is caused by mutations in the CHM gene, located on the X chromosome at position Xq21.2, which encodes the 95-kDa protein REP1 that is expressed throughout the body.

Choroideremia symptoms typically begin in childhood with night blindness, progressing to peripheral vision loss during the teenage years while central vision remains intact until middle age. Around the fifth decade, central vision rapidly declines, often accompanied by color vision loss due to macular degeneration. Severity can vary widely within families. Female carriers are usually asymptomatic but may experience mild night blindness and show signs of retinal changes like chorioretinopathy and pigmentary atrophy.

Choroideremia Diagnosis and Treatment Algorithm 

Choroideremia diagnosis is based on fundus examination showing pigment clumping and progressive atrophy of the retinal pigment epithelium with visible sclera and choroidal vessels, sparing the fovea until late stages. Fluorescein angiography highlights areas of choriocapillaris loss, while fundus autofluorescence detects early peripheral changes and disease progression. Carriers may show mild RPE changes due to X-chromosome inactivation.

Additional tests include electroretinography, which reveals early rod dysfunction, and optical coherence tomography, showing retinal thinning and cystoid macular edema. Visual field testing reflects areas of retinal degeneration. OCT angiography provides detailed imaging of retinal and choroidal blood flow changes, though its clinical role is still being studied.

Currently, there are no approved therapies for choroideremia, but ongoing clinical trials are making significant advances.

Choroideremia Epidemiology

The epidemiology section of the choroideremia 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 data with relevant tables and graphs, offering a clear and concise view of the prevalence of choroideremia. 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

As per secondary sources, choroideremia is a rare chorioretinal disorder affecting approximately 1 in 50,000 to 1 in 100,000 people. It primarily affects males because it is inherited in an X-linked manner, while females usually are asymptomatic carriers but can occasionally show symptoms. It is estimated that over 500 males in the United Kingdom and about 3,000 across Europe have the condition.

According to the National Organization for Rare Disease (NORD), Choroideremia mainly impacts males, while female carriers of the CHM gene mutation typically show little to no symptoms. However, a small percentage of female carriers may develop the disease due to a genetic mechanism that silences the normal CHM gene, leaving only the mutated gene active.

The epidemiology of choroideremia is expected to change during the forecast period (2025-2034).

Choroideremia Market Outlook

The choroideremia therapeutics market is further expected to increase by the major drivers, such as the rising prevalence population, technological advancements, and upcoming therapies in the forecast period (2025–2034).

With ongoing research and continued dedication, the future holds hope for even more effective treatments and, ultimately, a cure for this challenging condition. According to DelveInsight, the Choroideremia market in the 7MM is expected to change significantly during the forecast period 2025–2034.

Choroideremia Drug Chapters 

Emerging Choroideremia Drugs

The choroideremia market is expected to evolve gradually, driven by the limited number of emerging therapies currently in development. Key players such as KIO-301, by Kiora Pharmaceuticals among others are showing active commitment to addressing this unmet need, with ongoing efforts to advance novel treatment options for this complex condition.

KIO-301 (Intravitreal): Kiora Pharmaceuticals       

KIO-301 is an innovative “molecular photoswitch” therapy for inherited retinal diseases that targets retinal ganglion cells to restore vision by activating them with light. The ongoing ABACUS-2 trial is evaluating its effectiveness in patients with choroideremia and retinitis pigmentosa. KIO-301 is currently undergoing evaluation in the Phase I/II ABACUS clinical trial.

In July 2024, Kiora Pharmaceuticals received European Orphan Medicinal Product Designation for KIO-301 for the treatment of inherited retinal dystrophies that include choroideremia and more.

RTX-015: Ray Therapeutics

RTX-015 is a next generation channelrhodopsin based gene therapy treatment for human vision. It is administered through safe, quick and minimally invasive intravitreal injection. It repurposes the retinal neurons into light sensitive photoreceptors. The retinal cells then directly relay visual signals to the brain for interpretation as vision. 

RTX-015 has the potential to dramatically improve the patient’s quality of life for those affected by choroideremia. The therapy is currently being evaluated in the ENVISION study, a Phase I, open-label, dose-escalation clinical trial.

Note: Detailed emerging therapies assessment will be provided in the final report.

Choroideremia Market Segmentation

DelveInsight’s ‘Choroideremia – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a detailed outlook of the current and future choroideremia 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. 

Choroideremia Market Size by Countries

The choroideremia market size is assessed separately for various countries, including the United States, 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) choroideremia market, primarily attributed to the country’s higher prevalence of the condition. This dominance is projected to persist, especially with the potential early introduction of new products.

Choroideremia Market Size by Therapies

Choroideremia Market Size by Therapies is categorized into current and emerging markets for the study period 2020–2034. 

Note: Detailed market segment assessment will be provided in the final report.

Choroideremia Drugs Uptake

This section focuses on the sales uptake of potential choroideremia drugs that have recently been launched or are anticipated to be launched in the choroideremia market between 2020 and 2034. It estimates the market penetration of choroideremia drugs 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 choroideremia market.

The emerging choroideremia therapies are analyzed based on various attributes such as safety and efficacy in randomized clinical trials, order of entry and other market dynamics, and the unmet need they fulfill in the choroideremia market.

Note: Detailed assessment of drug uptake and attribute analysis will be provided in the full report on Choroideremia.

Choroideremia Market Access and Reimbursement

DelveInsight’s ‘Choroideremia – Market Insights, Epidemiology, and Market Forecast – 2034’ report provides a descriptive overview of the market access and reimbursement scenario of choroideremia.

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 choroideremia market trends and fill gaps in secondary findings, we interview KOLs and SMEs’ working in the choroideremia domain. Their opinion helps understand and validate current and emerging therapies and treatment patterns or choroideremia market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the choroideremia unmet needs.

Choroideremia: KOL Insights

DelveInsight’s analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. These KOLs were from organizations, institutes, and hospitals, such as University of California, US, University Hospital Tübingen, Germany, University of Barcelona, Barcelona, Spain, Institut de la Vision, Paris, France, University College London (UCL) Institute of Ophthalmology, UK, and The Jikei University School of Medicine, Japan, among others.

“Diagnosing choroideremia is challenging due to its early non-specific retinal degeneration and overlapping features with other retinal dystrophies like gyrate atrophy, X-linked retinitis pigmentosa, Usher syndrome, cone-rod dystrophy, and mutations in RPE65 and NRL. Additionally, severe autoimmune retinopathies can mimic some choroideremia features, complicating diagnosis further.”

“REP1 plays a crucial role in regulating Rab GTPases and is essential for vesicle trafficking in the retina and retinal pigment epithelium. Mutations in the CHM gene causing choroideremia include sequence changes, translocations, point mutations, small deletions, insertions, nonsense, and frameshift mutations. About 70% of these mutations are nonsense and frameshift types, while the remaining 30% are splicing mutations.”

“Female carriers of choroideremia are generally considered mostly unaffected. While the severity of the disease can vary widely among carriers, only a small portion experience severe symptoms like night blindness and vision loss comparable to affected males.”

Note: Detailed assessment of KOL Views will be provided in the full report Choroideremia.

Competitive Intelligence Analysis

We conduct a Competitive and Market Intelligence analysis of the choroideremia 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.

Choroideremia Pipeline Development Activities

The report offers an analysis of therapeutic candidates and examines companies involved in developing targeted therapeutics for choroideremia. 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 choroideremia therapies.

Choroideremia Report Insights

• Choroideremia Patient Population
• Therapeutic Approaches
• Choroideremia Pipeline Analysis
• Choroideremia Market Size and Trends
• Choroideremia Market Opportunities
• Impact of Upcoming Therapies

Choroideremia Report Key Strengths

• 10 Years Forecast
• The 7MM Coverage
• Choroideremia Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Choroideremia Market
• Choroideremia Drugs Uptake

Choroideremia Report Assessment

• Choroideremia Current Treatment Practices
• Unmet Needs
• Choroideremia Pipeline Product Profiles
• Choroideremia Market Attractiveness

Key Questions

• How common is Choroideremia?
• What are the key findings of Choroideremia epidemiology across the 7MM, and which country will have the highest number of patients during the study period (2020–2034)?
• What are the currently available treatments for Choroideremia?
• What are the disease risk, burden, and unmet needs of Choroideremia?
• At what CAGR is the choroideremia market and its epidemiology is expected to grow in the 7MM during the forecast period (2025–2034)?
• How would the unmet needs impact the choroideremia market dynamics and subsequently influence the analysis of the related trends?
• What would be the forecasted patient pool of choroideremia in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
• Among EU4 and the UK, which country will have the highest number of patients during the forecast period (2025–2034)?
• How many companies are currently developing therapies for the treatment of choroideremia?  

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the choroideremia 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.
• To understand the existing market opportunity 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 current treatment in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of approved therapies, barriers to accessibility of off-label expensive therapies, and patient assistance programs.
• To understand the perspective of Key Opinion Leaders 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.