In a significant breakthrough for treating inherited vision loss, Pennsylvania-based Spark Therapeutics has received European Commission (EC) approval for its pioneering gene therapy, Luxturna (voretigene neparvovec). Targeted at both children and adults, Luxturna addresses vision impairment caused by a rare, inherited retinal dystrophy associated with biallelic RPE65 mutations. This long-awaited approval now extends the gene therapy’s reach across all 28 EU member states, along with Norway, Iceland, and Liechtenstein.

A One-Time Treatment with Transformative Potential

Luxturna is an adeno-associated viral (AAV) vector gene therapy designed for single administration in patients with sufficient viable retinal cells. With its approval, the therapy offers new hope for individuals facing progressive vision loss—a condition that previously lacked viable treatment options. Spark Therapeutics’ Luxturna first gained U.S. FDA approval in December 2017, marking a major step forward in gene-based therapies for inherited eye diseases.

Novartis Partnership for Global Expansion

In January 2018, Spark Therapeutics expanded Luxturna’s market reach through a partnership with Novartis, which acquired exclusive licensing rights outside the U.S. for $170 million. This collaboration enables Novartis to introduce Luxturna across European and global markets, thereby making gene therapy accessible to a wider population facing genetic vision impairment.

Expert Insight: Novartis and Spark Therapeutics Leadership on EU Approval

Paul Hudson, CEO of Novartis Pharmaceuticals, emphasized that Luxturna’s approval aligns with Novartis’s mission to reimagine medicine and deliver societal value by transforming lives. Hudson stated that the company is committed to collaborating with healthcare stakeholders to facilitate access to the therapy for RPE65 patients, aiming to improve their quality of life by restoring vision capabilities.

Meanwhile, Ron Philip, Chief Commercial Officer at Spark Therapeutics, hailed the EU approval as a landmark in advancing gene therapies. He explained that with Luxturna’s dual approval in both the U.S. and EU, Spark Therapeutics is working to challenge the inevitability of genetic disease globally, creating a tangible impact for those affected by inherited retinal conditions.

Luxturna’s Mechanism of Action: How Gene Therapy Restores Vision

The therapeutic impact of Luxturna stems from its ability to introduce a functional copy of the RPE65 gene into retinal cells. By delivering viral vector particles equipped with the corrected gene, Luxturna enables retinal cells to produce the necessary enzyme for visual function, thereby mitigating the effects of the genetic mutation. This innovative approach restores the eye’s capacity to process light, offering hope for vision restoration in affected patients.

Clinical Trials: Evidence Underpinning Luxturna’s Approval

The EU approval for Luxturna was supported by data from three rigorous clinical trials involving 43 patients with inherited retinal dystrophy. These trials included a Phase 1 study, a follow-up assessment, and a pivotal Phase 3 trial. The trials demonstrated the therapy’s efficacy in enabling improved visual function, providing strong evidence for its regulatory approval.

The European Commission’s approval of Luxturna underscores the therapy’s revolutionary potential as the first gene therapy for inherited retinal diseases, paving the way for future genetic treatments in Europe. Both Spark Therapeutics and Novartis are poised to shape the gene therapy landscape, impacting the lives of patients who once had few treatment options for their inherited condition.

  Europe, European Commission, European Medicines Agency, inherited retinal disease, inherited retinal dystrophy, Luxturna, Novartis, Novartis Pharmaceuticals, Paul Hudson, Ron Philip, RPE65-mediated inherited retinal disease, Spark Therapeutics, voretigene neparvovec