LUXTURNA Continues to Lead in Retinal Gene Therapy with Increased Market Penetration | DelveInsight

Spark Therapeutics/Novartis' LUXTURNA (AAV2-hRPE65v2; voretigene neparvovec) Overview

LUXTURNA (voretigene neparvovec-rzyl, AAV2-hRPE65v2) is a one-time gene therapy designed to treat vision loss caused by mutations in both copies of the RPE65 gene. It works by delivering a functional copy of the RPE65 gene to replace the faulty one, helping to restore vision. The therapy is administered as a single subretinal injection beneath the retina in patients with confirmed RPE65 mutations and viable retinal cells.

LUXTURNA was developed and commercialized in the US by Spark Therapeutics. Outside the US, Novartis holds the rights for development, registration, and commercialization under a licensing agreement. It is approved for treating vision loss caused by Leber's congenital amaurosis or retinitis pigmentosa due to confirmed biallelic RPE65 mutations.

LUXTURNA uses an adeno-associated viral type 2 (AAV2) vector to deliver the RPE65 gene. The vector includes a cytomegalovirus (CMV) enhancer and a chicken beta-actin promoter to drive the expression of the normal human RPE65 protein. The parent AAV2 virus, which serves as the template, is a non-pathogenic, single-stranded DNA virus that depends on a helper virus for replication. Once inside retinal cells, the functional RPE65 protein enables the regeneration of 11-cis-retinal, which improves light detection and restores vision.

In healthy individuals, RPE65 in retinal pigment epithelial cells converts all-trans-retinol into 11-cis-retinol, which then forms 11-cis-retinal—a critical step in the visual cycle that converts light into electrical signals. Mutations in the RPE65 gene disrupt this process, leading to vision loss. LUXTURNA restores the retinoid cycle by reintroducing functional RPE65 protein.

LUXTURNA Dosage and Administration

LUXTURNA Dosage Forms and Strengths

LUXTURNA is provided as a suspension for subretinal injection in a 0.5 mL extractable volume within a 2 mL single-dose vial. The concentration is 5 × 10¹² vg/mL, requiring a 1:10 dilution before use. The diluent is supplied in two single-use 2 mL vials.

Learn more about LUXTURNA projected market size for retinitis pigmentosa @ LUXTURNA Market Potential 

Retinitis pigmentosa is a group of inherited retinal disorders that cause progressive degeneration of the retina and eventual blindness. It involves the gradual bilateral deterioration of rod and cone photoreceptors, leading to night blindness and progressive loss of peripheral vision, followed by a decline in central vision due to the loss of cone function. Retinitis pigmentosa is primarily linked to genetic mutations, with over 44 associated genes identified. In 2023, approximately 113,000 people in the US were affected by retinitis pigmentosa.

Currently, available treatments are mainly off-label and do not address the underlying genetic causes of retinitis pigmentosa. Patients without the RPE65 mutation rely on supportive care, such as vitamin supplements, protection from sunlight, and visual aids. LUXTURNA is the only approved therapy for retinitis pigmentosa but is limited to patients with the RPE65 mutation.

Gene and cell therapies are becoming key treatment strategies, targeting genes like RHO, USH2A, and RPGR. USH2A is a major focus, with two oligonucleotide candidates advancing in the RP pipeline. Optogenetics offers a novel gene therapy approach that works independently of specific gene mutations and shows promise in treating late-stage RP with severe photoreceptor loss.

Several companies have progressed optogenetic gene therapies into clinical trials. According to DelveInsight, the retinitis pigmentosa gene therapy market is expected to grow due to increasing disease prevalence, improved awareness and treatment access, and a strong pipeline of therapies across the 7MM.

Discover more about the retinitis pigmentosa market in detail @ Retinitis Pigmentosa Market Report

Emerging Competitors of LUXTURNA

Some of the drugs in the retinitis pigmentosa pipeline include Botaretigene sparoparvovec (Johnson & Johnson Innovative Medicine/MeiraGT), AGTC-501 (Beacon Therapeutics), MCO-010 (Nanoscope Therapeutics), GS030 (Gensight Biologics), CTx PDE6B (Coave Therapeutics), OCU 400 (Ocugen), jCell (jCyte), EA-2353 (Endogena Therapeutics), Ultevursen (ProQR Therapeutics), ADX‑2191 (Aldeyra Therapeutics), and other.

In January 2025, Beacon Therapeutics Holdings Limited reported that the FDA has awarded Regenerative Medicine Advanced Therapy (RMAT) designation to laru-zova (laruparetigene zovaparvovec) for treating X-linked retinitis pigmentosa (XLRP).

To know more about the number of competing drugs in development, visit @ LUXTURNA Market Positioning Compared to Other Drugs

Key Milestones of LUXTURNA

LUXTURNA Patent Details

The company holds the following patents related to its AAV-based retinal gene therapy: 

Patent for manufacturing gene therapy vector

Spark Therapeutics holds exclusive licenses for three patent application families from CHOP, covering scalable methods for manufacturing high-purity gene therapy vectors. The first patent family pertains to the production of Spark's product candidates, including those under its collaboration with Pfizer. Patents from this family have been granted in the United States, Australia, and Mexico, with expiration dates in 2021, not accounting for any potential extensions or adjustments. Related patent applications are still under review in the United States, Brazil, Canada, China, Europe, Israel, India, and Japan. If granted, these patents are expected to expire in 2031, excluding any possible extensions or adjustments.

Modified AAV vectors and gene delivery

Spark Therapeutics is advancing technology across multiple areas to enhance and broaden its current product pipeline. This technology, exclusively licensed from CHOP, focuses on modifying gene therapy vectors, incorporating companion therapies or diagnostics, and developing new therapeutic genes. The licensed patent portfolio includes:

Discover how LUXTURNA is shaping the retinitis pigmentosa treatment landscape @ LUXTURNA Gene Therapy

LUXTURNA Market Dynamics

The market for LUXTURNA is primarily driven by the increasing prevalence of inherited retinal diseases (IRDs) and the growing acceptance of gene therapy as a viable treatment option. The high unmet medical need for effective treatments for rare genetic diseases has created a favorable environment for LUXTURNA. The therapy's ability to deliver long-term benefits from a single administration, reducing the burden of repeated treatments, has also contributed to its market acceptance. Furthermore, the strong backing from Roche, with its extensive commercialization and market access infrastructure, has helped expand LUXTURNA's reach across multiple markets. Favorable reimbursement policies in the U.S. and Europe have further supported market uptake.

Despite its success, LUXTURNA faces significant market challenges. The high cost of treatment, which exceeds $850,000 for both eyes, poses a barrier to widespread adoption, even with reimbursement support. Access to treatment is also limited by the need for specialized surgical centers and trained ophthalmologists, which restricts the therapy's availability to select geographic regions. Moreover, as gene therapy technology evolves, the emergence of newer, potentially more effective or cost-efficient treatments could pose competitive pressure. Additionally, the complexity of gene therapy manufacturing and delivery, along with stringent regulatory requirements, adds to the operational challenges faced by Spark Therapeutics and Roche.

The future market dynamics of LUXTURNA are expected to be influenced by ongoing advancements in gene therapy, increasing diagnostic capabilities for inherited retinal diseases, and expanding treatment infrastructure. Strategic partnerships and continued investment in patient access programs and healthcare provider training could enhance market penetration. Additionally, the successful clinical outcomes and long-term durability of LUXTURNA will play a crucial role in sustaining patient and physician confidence. As the gene therapy market matures, LUXTURNA's position as a first-mover in the inherited retinal disease space will likely provide it with a competitive edge, although it will need to navigate pricing pressures and emerging competition in the broader ophthalmology and gene therapy markets.

Dive deeper to get more insight into LUXTURNA's strengths & weaknesses relative to competitors @ LUXTURNA Market Drug Report

Table of Contents

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