- Early next year, Spark Therapeutics Inc.'s gene therapy Luxturna could become the first such treatment for an inherited condition to win approval in the U.S., bringing with it new hope for patients with a rare form of childhood blindness.
- At the same time, the one-time treatment will likely command a premium price, putting the promise of gene therapy in stark relief to questions of affordability and access.
- Spark has yet to determine a price for its treatment. Yet recent comments from the biotech's CEO suggest Luxturna's cost could approach the $1 million mark, which would make the gene therapy one of the most expensive medicines on the market.
Luxturna, or voretigene neparvovec, is designed to treat patients with vision loss due to retinal dystrophies associated with a mutation in a gene known as RPE65. Collectively, RPE65 mutation-associated retinal dystrophy affects between 1,000 to 2,000 patients in the U.S.
People who have the condition typically first experience night blindness and an inability to see in dim lighting. Onset occurs in early childhood, and 50% of affected people are legally blind by age 16. Most eventually progress to complete blindness, with no available pharmacological treatments to slow the progression.
In a small clinical study, Luxturna improved sight in nearly all trial participants. In October, an independent advisory panel reviewing the therapy's risk/benefit profile unanimously recommended the FDA approve the treatment, convinced by Spark's evidence as well as moving testimony from patients and physicians.
In determining an appropriate price for Luxturna, Spark is navigating untested ground. Not only are there no available treatments for the condition Luxturna aims to treat, the medicine promises to restore sight for years if not decades — making it difficult to settle on one flat price.
Treating RPE-65 mutation-associated retinal dystrophy does present some of the same challenges seen in other rare disease markets: few patients and higher development costs.
In addition, Spark has also emphasized the indirect costs Luxturna would reduce or otherwise eliminate. Many children and young adults with the condition struggle to complete education, while parents and other providers face lost wages in caring for their children.
"We are encouraged that by modeling reasonable assumptions about the impact of Luxturna on these types of indirect costs, as well as on quality of life and direct medical cost over a patient's lifetime, that there is support for the value of the therapy in excess of $1 million per patient," said Spark CEO Jeff Marrazzo on a Nov. 7 call with analysts.
Marrazzo also noted that compensation paid out under disability policies and in awards granted in court cases where people suffered vision loss reached or surpassed $1 million.
Typically, however, payers don't reimburse for the indirect costs experienced by a patient or by society at large. Other diseases also place a burden on a patient's ability to complete education/work, or disrupt the lives of caregivers.
Where Luxturna could differentiate itself is that its long-term value may be more clear-cut: sustained improvement in vision for a lifetime versus near-certain blindness.
That Luxturna could be worth a seven-figure sum does not mean Spark will price it at that level. Novartis AG, for example, priced its CAR-T therapy Kymriah (tisagenlecleucel) at $475,000 per patient even though its analysis suggested a value of $600,000 to $750,000.
Still, the comments by Marrazzo suggest Luxturna could test the upper limits of what medicines have been priced at historically.
Infamously, Uniqure N.V. priced its gene therapy Glybera (alipogene tiparvovec) over $1 million in Europe, before withdrawing the medicine after finding no demand. GlaxoSmithKline plc charges roughly $665,000 for its gene treatment for ADA-SCID, although it too has struggled to find patients.
Spark would be the first to try to navigate the U.S. payer market to seek reimbursement for a gene therapy.
"We've had conversations with all the large commercial payers, many regional ensurers as well as CMS and numerous Medicaid plans," Marrazzo said. "In these interactions, we have been successful in helping payers understand the burden of RPE65 mediated [inherited retinal dystrophy], as well as how Luxturna could be a lifelong term solution based on its expected positive risk benefit profile and the evidence of its durable effect from a single dose."
Despite the remarkable advances in science Spark has made, successfully commercializing Luxturna — if approved — will post a whole new set of challenges. How Spark approaches those hurdles could set the tone for other gene therapies to come.