遺伝性網膜疾患向けAAV - 競合情勢（2025年）

レポートのハイライト

• 2025年5月、Ocugenはアデノ随伴ウイルス（AAV）ベクターを用いた遺伝子治療薬OCU410STについて、スターガルト病、網膜色素変性症、錐体ジストロフィーを含むABCA4関連網膜症の治療薬として、FDAから小児希少疾患の指定を受けました。
• 2025年4月、Atsena Therapeuticsは、米国食品医薬品局（FDA）より、X連鎖性網膜症（XLRS）治療薬ATSN-201が再生医療先進治療薬に指定されたと発表しました。
• 2025年3月、SpliceBioは、スターガルト病の治療を目的とした二重アデノ随伴ウイルス（AAV）ベクターベースの遺伝子治療薬SB-007を評価するフェーズI/II ASTRA臨床試験において、最初の患者に投与したと発表しました。
• 2025年3月、Avirmax Biopharmaは、補体活性化、抗炎症、網膜色素上皮と視細胞を保護する3つの遺伝子を伝達する可能性のあるAAVベクター、ABI-201のIND-enabling試験の開始を発表しました。また、この新薬は網膜新生血管の遮断も目的としています。
• 2024年12月、ViGeneron GmbHは、米国食品医薬品局（FDA）が、ABCA4遺伝子の変異に関連するスターガルト病やその他の網膜ジストロフィーを治療する革新的な遺伝子治療薬となりうるVG801のフェーズI/II試験の治験許可申請を承認したと発表しました。
• 2024年8月、Opus Geneticsは、LCA5遺伝子の2塩基変異に起因するレーバー先天性黒内障（LCA）患者を治療する眼科用遺伝子治療薬候補であるOPGx-LCA5について、FDAから希少小児疾患（RPD）の指定を受けました。
• 2024年7月、Charles River Laboratories International, Inc.とAAVantgardeは、適正製造規範（GMP）プラスミドDNAを製造する開発製造受託機関（CDMO）契約を締結したと発表しました。AAVantgardeは、大規模遺伝子デリバリーに用いる2つの独自のアデノ随伴ウイルス（AAV）ベクタープラットフォームを有する、遺伝性網膜疾患を治療する製品を開発している臨床段階のバイオテクノロジー企業であり、GMPプラスミドDNAの製造におけるCharles Riverの専門知識を活用します。

当レポートでは、遺伝性網膜疾患向けAAVの競合情勢における75社以上の企業、80品目以上の医薬品に関する包括的な知見を提供しています。また、製品タイプ別、段階別、投与経路別、分子タイプ別に治療薬を評価し、休止中のパイプライン製品も取り上げています。

目次

イントロダクション

エグゼクティブサマリー

遺伝性網膜疾患向けAAV：概要

• イントロダクション
• 遺伝性網膜疾患のタイプ
• 作用機序
• 課題と制限
• AAV遺伝子治療の将来の方向性

遺伝性網膜疾患向けAAV - 分析的視点：詳細な商業的評価

• 遺伝性網膜疾患向けAAVの提携の分析：企業別

競合情勢

• 企業の比較評価：治療薬別、開発段階別、技術別

治療法の評価

• 評価：製品タイプ別
• 評価：段階別、製品タイプ別
• 評価：投与経路別
• 評価：段階別、投与経路別
• 評価：分子タイプ別
• 評価：段階別、分子タイプ別

遺伝性網膜疾患向けAAV：企業と製品のプロファイル（上市済みの治療薬）

Novartis

• 企業の概要

LUXTURNA

• 製品の説明
• 研究開発活動
• 製品開発活動

遺伝性網膜疾患向けAAV：企業と製品のプロファイル（パイプライン治療薬）

後期段階の製品（フェーズIII）

• 比較分析

Johnson & Johnson/MeiraGTx

• 企業の概要

Botaretigene sparoparvovec

• 製品の説明
• 研究開発活動
• 製品開発活動

中期段階の製品（フェーズII）

• 比較分析

Beacon Therapeutics

• 企業の概要

AGTC-501

• 製品の説明
• 研究開発活動
• 製品開発活動

初期段階の製品（フェーズI）

• 比較分析

4D Molecular Therapeutics

• 企業の概要

4D 125

• 製品の説明
• 研究開発活動
• 製品開発活動

前臨床/探索段階の製品

• 比較分析

MeiraGTx

• 企業の概要

A007

• 製品の説明
• 研究開発活動
• 製品開発活動

休止中の製品

• 比較分析

遺伝性網膜疾患向けAAV - アンメットニーズ

遺伝性網膜疾患向けAAV - 市場促進要因と障壁

List of Tables

• Table 1 Total Products for AAV for the hereditary retinal disease
• Table 2 Late Stage Products
• Table 3 Mid Stage Products
• Table 4 Early Stage Products
• Table 5 Pre-clinical & Discovery Stage Products
• Table 6 Assessment by Product Type
• Table 7 Assessment by Stage and Product Type
• Table 8 Assessment by Route of Administration
• Table 9 Assessment by Stage and Route of Administration
• Table 10 Assessment by Molecule Type
• Table 11 Assessment by Stage and Molecule Type
• Table 12 Inactive Products

List of Figures

• Figure 1 Total Products for AAV for the hereditary retinal disease
• Figure 2 Late Stage Products
• Figure 3 Mid Stage Products
• Figure 4 Early Stage Products
• Figure 5 Preclinical and Discovery Stage Products
• Figure 6 Assessment by Product Type
• Figure 7 Assessment by Stage and Product Type
• Figure 8 Assessment by Route of Administration
• Figure 9 Assessment by Stage and Route of Administration
• Figure 10 Assessment by Molecule Type
• Figure 11 Assessment by Stage and Molecule Type
• Figure 12 Inactive Products

DelveInsight's, "AAV for the Hereditary Retinal Diseases - Competitive landscape, 2025," report provides comprehensive insights about 75+ companies and 80+ drugs in AAV for the hereditary retinal disease Competitive landscape. It covers the therapeutics assessment by product type, stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

Geography Covered:

• Global coverage

AAV for the hereditary retinal disease: Understanding

AAV for the hereditary retinal disease: Overview

Adeno-associated virus (AAV) is a widely used gene therapy vector for treating hereditary retinal diseases, which are caused by mutations in genes critical for retinal function, such as RPE65, CEP290, or CHM. These diseases include conditions like Leber congenital amaurosis (LCA), retinitis pigmentosa, and choroideremia etc; leading to progressive vision loss or blindness. AAV is particularly suitable for ocular gene therapy due to its low immunogenicity (minimizing immune reactions) and ability to transduce non-dividing cells (like photoreceptors and retinal pigment epithelium) long-term expression after a single administration, localized delivery via subretinal or intravitreal injection, reducing systemic exposure.

Adeno-associated virus (AAV) vectors are used to deliver a functional copy of a defective gene directly into retinal cells-typically the retinal pigment epithelium (RPE) or photoreceptors-via subretinal or intravitreal injection. Once inside the cell, the AAV's DNA remains episomal (non-integrating) and uses the host's transcription machinery to produce the therapeutic protein. This restores the function of the mutated gene responsible for the hereditary retinal disease. AAV vectors are non-pathogenic, have low immunogenicity, and enable long-term gene expression after a single administration.

Future directions in AAV gene therapy for hereditary retinal diseases include combining AAV with CRISPR/Cas9 systems for precise in vivo genome editing, enabling correction of disease-causing mutations at their source. Advances in dual AAV vectors and novel delivery platforms are expanding the potential to treat genes with large payloads. Researchers are also working on broad-spectrum, mutation-independent approaches, such as neuroprotective or optogenetic therapies, to benefit patients regardless of their specific genetic mutation. These innovations aim to make retinal gene therapy more inclusive, effective, and durable. To overcome pre-existing immunity and enable repeat dosing, researchers are developing strategies to bypass neutralizing antibodies (NAbs) against AAV. These include engineering novel AAV serotypes or synthetic capsids that evade immune recognition, as well as using decoy capsids to "distract" antibodies and allow therapeutic vectors to reach target cells. Other approaches involve plasma exchange or transient immunosuppression during administration. These innovations aim to broaden patient eligibility and improve long-term efficacy of AAV gene therapies.

Despite the promise of AAV-based gene therapy for hereditary retinal diseases, several challenges remain:

Limited Packaging Capacity: AAV vectors can carry only ~4.7 kb of genetic material, making it difficult to deliver large genes like ABCA4 or USH2A associated with Stargardt disease and Usher syndrome. Solutions like dual-vector systems are still under refinement.

Immune Response: Pre-existing or therapy-induced neutralizing antibodies (NAbs) against AAV capsids can reduce transduction efficiency and prevent re-administration, limiting treatment durability and patient eligibility.

Cell-Type and Tissue Targeting: Achieving efficient and selective delivery to specific retinal cells (e.g., photoreceptors vs. RPE) remains a challenge, especially via less invasive intravitreal routes.

Durability and Long-Term Safety: Although AAV enables long-term expression, there is limited data on its very long-term effects, including the risk of retinal inflammation or toxicity over decades.

Manufacturing and Scalability: Producing high-quality AAV vectors at scale with consistent potency, purity, and safety is technically complex and cost-intensive, posing hurdles for widespread clinical application.

Report Highlights:

• In May 2025, Ocugen had received rare pediatric disease designation from the FDA for OCU410ST, an investigational adeno-associated virus (AAV) vector-based gene therapy, for the treatment of ABCA4-associated retinopathies, including Stargardt disease, retinitis Pigmentosa and cone-rod dystrophy.
• In April 2025, Atsena Therapeutics announced that the U.S. Food and Drug Administration (FDA) had granted Regenerative Medicine Advanced Therapy designation for ATSN-201 for the treatment of X-linked retinoschisis (XLRS).
• In March 2025, SpliceBio announced that it had dosed the first patient in the Phase I/II ASTRA clinical trial which is evaluating SB-007, a dual adeno-associated virus (AAV) vector-based gene therapy intended to treat Stargardt disease.
• In March 2025, Avirmax Biopharma announced the beginning of Investigational New Drug (IND)-enabling studies of ABI-201, a potential AAV vector that delivers 3 genes to correct the dysregulation of complement activation, anti-inflammation, to protect retinal pigment epithelia and photoreceptors in patients. The potential new drug also aims to block retinal neovascularization.
• In December 2024, ViGeneron GmbH announced that the United States Food and Drug Administration (FDA) had cleared the Investigational New Drug (IND) application for the Phase I/II study of VG801, a potentially transformative gene therapy to treat Stargardt disease and other retinal dystrophies associated with mutations in the ABCA4 gene.
• In August 2024, Opus Genetics had received Rare Pediatric Disease designation (RPD) from the FDA for OPGx-LCA5, its investigational ocular gene therapy candidate, to treat patients diagnosed with Leber congenital amaurosis (LCA) resulting from biallelic mutations in the LCA5 gene.
• In July 2024, Charles River Laboratories International, Inc. and AAVantgarde announced a contract development and manufacturing organization (CDMO) agreement to produce Good Manufacturing Practice- (GMP) plasmid DNA. AAVantgarde, a clinical-stage biotechnology company with two proprietary adeno-associated viral (AAV) vector platforms for large gene delivery and developing products to treat inherited retinal diseases, will leverage Charles River's expertise in manufacturing GMP plasmid DNA.

AAV for the hereditary retinal disease: Company and Product Profiles (Marketed Therapies)

1. Company Overview: Novartis

Novartis International AG is a global healthcare company based in Switzerland, and one of the largest pharmaceutical companies in the world. Founded in 1996 through the merger of Ciba-Geigy and Sandoz, Novartis is involved in the research, development, manufacturing, and marketing of a broad range of healthcare products, with a focus on pharmaceuticals, generics, and biosimilar. Novartis has committed to sustainable healthcare solutions, including efforts to reduce environmental impact and improve global access to medicines. It also works on initiatives to provide affordable drugs in low- and middle-income countries.

Product Description: LUXTURNA

LUXTURNA is an adeno-associated virus (AAV) vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells, as determined by the treating physician. Mutations in the RPE65 (retinal pigment epithelial 65 kDa protein) gene lead to reduced or absent levels of RPE65 isomerohydrolase activity, blocking the visual cycle and resulting in impairment of vision. Injection of LUXTURNA into the subretinal space results in the transduction of some retinal pigment epithelial cells with a cDNA encoding normal human RPE65 protein, thus providing the potential to restore the visual cycle.

AAV for the hereditary retinal disease: Company and Product Profiles (Pipeline Therapies)

1. Company Overview: Johnson & Johnson/MeiraGTx

MeiraGTx is a clinical-stage, vertically integrated gene therapy company with six clinical programs and a strong preclinical pipeline. It specializes in viral vector design, gene regulation technologies, and manufacturing. The company focuses on ocular, neurodegenerative, and salivary gland disorders, with plans to expand into other serious diseases. MeiraGTx's initial focus is on three distinct areas of unmet medical need: ocular diseases, including both inherited retinal diseases as well as large degenerative ocular diseases, neurodegenerative diseases, and severe forms of xerostomia.

Johnson & Johnson Innovative Medicine is a division of Johnson & Johnson that focuses on healthcare innovation. Patients inform and inspire their science-based innovations, which aim to prevent and cure complex diseases, provide smarter and less invasive treatments, and offer personalized solutions. Their portfolio spans multiple therapeutic areas, including Oncology, Immunology, Neuroscience, Cardiovascular, Pulmonary Hypertension, and Retina.

Product Description: Botaretigene sparoparvovec

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. Treatment with bota-vec was found to have an acceptable safety profile and efficacy assessments in this proof-of-concept study demonstrated improvements in retinal sensitivity, visual function and functional vision. 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.

2. Company Overview: Beacon Therapeutics

Beacon Therapeutics is an ophthalmic gene therapy company founded in 2023 with the goal of saving and restoring the vision of patients with a variety of prevalent and rare retinal diseases. The company's lead clinical candidate is AGTC-501, an adeno-associated virus (AAV) gene therapy for X-linked retinitis pigmentosa (XLRP), which is currently in Phase II clinical trials. Beacon Therapeutics was created through the combination of Applied Genetic Technologies Corporation (AGTC) with two other pre-clinical programs. The company also has two preclinical assets in its portfolio, including a program for dry age-related macular degeneration. Syncona Limited, a life sciences investment firm, has a majority stake in Beacon Therapeutics and led the financing round alongside additional investors, including Oxford Science Enterprises.

Product Description: AGTC-501

AGTC-501 is a gene therapy program currently in a Phase II/III clinical trial for the treatment of X-Linked Retinitis Pigmentosa (XLRP) that was acquired as part of Syncona's acquisition of AGTC in November 2022. XLRP is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Unlike other approaches in the space, AGTC-501 expresses the full length RPGR protein, thereby addressing the full complement of photoreceptor damage caused by XLRP, including both rod and cone loss.

3. Company Overview: 4D Molecular Therapeutics

4DMT is a clinical-stage biopharma company inventing and developing innovative products to unlock the full potential of genetic medicine to treat large-market diseases. The company uses its own transformative vector discovery platform, termed Therapeutic Vector Evolution, to create customized and proprietary gene delivery vehicles (i.e., vectors) to deliver therapeutic payloads to specific tissue types associated with the underlying disease via the optimal route of administration. The product design, development, and manufacturing engines efficiently create a valuable and diverse product pipeline. This combination of bold innovation and relentless execution gives 4DMT the capability to revolutionize genetic medicines and strive for potential curative therapies.

Product Description: 4D 125

4D-125 is an investigational genetic medicine using the R100 vector for the treatment of XLRP related to mutations in the RPGR gene. This product candidate is highly differentiated because it utilizes the primate evolved and customized intravitreal R100 vector for transgene (RPGR) delivery to the retina with the goal of transgene expression in all regions of the retina after a single dose. 4D-125 is currently being evaluated in a Phase I/II trial for the treatment of X-Linked Retinitis Pigmentosa.

4. Company Overview: Coave Therapeutics

Coave Therapeutics is leading the transition of genetic medicine from ultra-rare to prevalent conditions, with an initial focus on neurodegenerative and ocular diseases. The company's proprietary ALIGATER (Advanced Vectors-Ligand Conjugates) platform introduces chemical modifications to AAV capsids or Lipid Nanoparticles (LNPs), overcoming the limitations of current vectors on efficacy, safety, and manufacturability. With low doses and optimized routes of administration, the conjugated vectors have demonstrated markedly improved transduction and bio distribution in the central nervous system and the eye across different species, and the diversified pipeline of novel genetic medicines can potentially transform the lives of people afflicted by rare and prevalent neurodegenerative and ocular diseases, including genetically and non-genetically defined indications.

Product Description: CTx PDE6B

FMX114 is VYNE's proprietary tofacitinib and fingolimod combination gel formulation under investigation for the treatment of mild to moderate AAV for the hereditary retinal disease. FMX114 attempts to address both the source and cause of inflammation in AD by developing a distinct combination of tofacitinib (a Janus kinase Inhibitor aimed at reducing inflammation by inhibiting cytokine release from inflammatory cells) and fingolimod (Sphingosine 1-phosphate receptor modulator), which approaches the reduction of inflammation by inhibiting migration of the inflammatory cells and, in addition, may also directly support skin barrier recovery. Based on the Phase IIa results and subsequent analysis of a two-week open label extension period, the company believes that FMX114 may have an improved overall treatment effect on patients with more severe disease at baseline, and that FMX114 may have increased potential to effectively treat patients with more moderate-to-severe AD. The company is evaluating partnering opportunities for this program and intends to focus its resources on the BET inhibitor development programs.

5. Company Overview: MeiraGTx Limited. A

MeiraGTx is a vertically integrated, clinical-stage gene therapy company with six programs in clinical development and a broad pipeline of preclinical and research programs. MeiraGTx has core capabilities in viral vector design and optimization and gene therapy manufacturing, and a transformative gene regulation platform technology that allows precise, dose-responsive control of gene expression by oral small molecules with dynamic range that can exceed 5000-fold. Led by an experienced management team, MeiraGTx has taken a portfolio approach by licensing, acquiring, and developing technologies that give depth across both product candidates and indications. MeiraGTx's initial focus is on three distinct areas of unmet medical need: ocular diseases, including both inherited retinal diseases as well as large degenerative ocular diseases, neurodegenerative diseases, and severe forms of xerostomia. Though initially focusing on the eye, central nervous system, and salivary gland, MeiraGTx plans to expand its focus to develop additional gene therapy treatments for patients suffering from a range of serious diseases.

Product Description: A007

A007, developed by MeiraGTx, is a preclinical gene therapy candidate designed to treat a range of inherited retinal dystrophies including RDH12-associated retinal dystrophy, Bardet-Biedl syndrome type 10 (BBS10), Stargardt disease, and KCNV2-associated cone dystrophy. It employs AAV-mediated delivery to supply functional copies of disease-causing genes directly to retinal cells. Early-stage programs-including AAV5-RDH12 and AAV8-RK-BBS10-have received Rare Pediatric Disease Designations from the FDA, underscoring their potential to address serious pediatric vision loss. MeiraGTx's advanced vector engineering and riboswitch-controlled expression systems promise precise, durable gene expression. Positioned within a growing pipeline of ocular gene therapies, A007 exemplifies a cutting-edge, one-time treatment strategy targeting multiple debilitating inherited retinal disorders.

AAV for the hereditary retinal disease Analytical Perspective by DelveInsight

• In-depth Commercial Assessment: AAV for the hereditary retinal disease Collaboration Analysis by Companies

The Report provides in-depth commercial assessment of drugs that have been included, which comprises collaboration, agreement, licensing and acquisition - deals values trends. The sub-segmentation is described in the report which provide company-company collaboration (licensing/partnering), company academic collaboration and acquisition analysis in tabulated form.

• AAV for the hereditary retinal disease Competitive Landscape

The report comprises of comparative assessment of Companies (by therapy, development stage, and technology).

AAV for the hereditary retinal disease Report Assessment

• Company Analysis
• Therapeutic Assessment
• Pipeline Assessment
• Inactive drugs assessment
• Unmet Needs

Key Questions:

Current Treatment Scenario and Emerging Therapies:

• How many companies are developing AAV for the hereditary retinal disease drugs?
• How many AAV for the hereditary retinal disease drugs are developed by each company?
• How many emerging drugs are in mid-stage, and late-stage of development for the treatment of AAV for the hereditary retinal disease?
• What are the key collaborations (Industry-Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the AAV for the hereditary retinal disease therapeutics?
• What are the recent trends, drug types and novel technologies developed to overcome the limitation of existing therapies?
• What are the clinical studies going on for AAV for the hereditary retinal disease and their status?
• What are the key designations that have been granted to the emerging and approved drugs?

Key Players

• Novartis
• MeiraGTx Limited. A
• Johnson & Johnson
• Neurophth Therapeutics
• Beacon Therapeutics
• 4D Molecular Therapeutics
• Coave Therapeutics
• MeiraGTx Limited. A
• Ocugen
• Atsena Therapeutics
• SpliceBio

Key Products

• LUXTURNA (voretigene neparvovec)
• AAV-RPE65
• Botaretigene sparoparvovec
• NFS-01
• AGTC-501
• 4D-125
• HORA-PDE6b
• A007
• OCU410ST
• ATSN-201
• SB-007

Table of Contents

Introduction

Executive Summary

AAV for the hereditary retinal disease: Overview

• Introduction
• Types of hereditary retinal diseases
• Mechanism of action
• Challenges and Limitation
• Future directions in AAV gene therapy

AAV for the hereditary retinal disease -Analytical Perspective: In-depth Commercial Assessment

• AAV for the hereditary retinal disease Collaboration Analysis by Companies

Competitive Landscape

• Comparative Assessment of Companies (by therapy, development stage, and technology)

Therapeutic Assessment

• Assessment by Product Type
• Assessment by Stage and Product Type
• Assessment by Route of Administration
• Assessment by Stage and Route of Administration
• Assessment by Molecule Type
• Assessment by Stage and Molecule Type

AAV for the hereditary retinal disease: Company and Product Profiles (Marketed Therapies)

Novartis

• Company Overview

LUXTURNA

• Product Description
• Research and Development Activities
• Product Developmental Activities

AAV for the hereditary retinal disease: Company and Product Profiles (Pipeline Therapies)

Late Stage Products (Phase III)

• Comparative Analysis

Johnson & Johnson/MeiraGTx

• Company Overview

Botaretigene sparoparvovec

• Product Description
• Research and Development Activities
• Product Developmental Activities

Mid Stage Products (Phase II)

• Comparative Analysis

Beacon Therapeutics

• Company Overview

AGTC-501

• Product Description
• Research and Development Activities
• Product Developmental Activities

Early Stage Products (Phase I)

• Comparative Analysis

4D Molecular Therapeutics

• Company Overview

4D 125

• Product Description
• Research and Development Activities
• Product Developmental Activities

Preclinical and Discovery Stage Products

• Comparative Analysis

MeiraGTx

• Company Overview

A007

• Product Description
• Research and Development Activities
• Product Developmental Activities

Inactive Products

• Comparative Analysis

AAV for the hereditary retinal disease- Unmet needs

AAV for the hereditary retinal disease - Market drivers and barriers