High hopes for gene therapy raise fears about cost

Caspian was born with a rare hereditary eye disease called Leber's Congenital Amaurosis, which causes a gradual deterioration of the retina, the tissue located at the back of the eye that detects light and color. He could lose all vision as a teenager.

This month, Caspian was among the first patients in the country to receive a new gene therapy treatment called Luxturna, which its doctors at the University of Health and Science of Oregon believe improve its vision and prevent deterioration additional.

The therapy involves inserting a functional gene through harmless virus-like particles into the retinal cells to compensate for the defective gene at the origin of its disease.

This is one of the most expensive treatments on the market, with a price of $ 850,000 to treat both eyes, raising questions about how the health system will absorb these treatments as it progresses. they will become more common.

Doctors still remember what happened with Glybera of UniQure, a gene therapy treatment for patients with rare enzymatic deficiency, approved by the European Union in 2012. Last year, the company gave up this expensive treatment.

The new procedure is the first gene therapy treatment for hereditary diseases caused by a single gene coming to the US market. Doctors believe that gene therapies will become an increasingly common way to quickly treat a range of diseases. Treatments for other diseases, including other vision disorders and hemophilia, are under development. A gene therapy called CAR-T genetically modifies a patient's cells to attack cancer cells.

Krista Soto, Caspian's mother, said she started charging her husband's health insurance in January. "It was a very long process," says Ms. Soto, who lives in Portland, Oregon. "There was a lot of going back and forth with things that were approved, rejected, and then approved. After jumping through hoops, they finally said that they would cover it, "she said.

She says

Spark Therapeutics
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The manufacturer of Luxturna, based in Philadelphia, offered to pay the approximately $ 4,000 in reimbursable expenses.

Caspian underwent eye surgery last week and should be on the sidelines on Monday. The family does not know how it works for about a month.

"We all have high hopes for the effect of this treatment," says Paul Yang, an assistant professor of ophthalmology at Casey Eye Institute of OHSU and a Caspian doctor. "When you catch the patient earlier in life, there is a lot more retinal nerve tissue in the eye that is still available and viable for treatment. We therefore believe that the best value for money will be handled quickly. "

Caspian is the second patient to receive OHSU treatment.

David Wilson, director of the Casey Eye Institute, says that getting insurance plans to approve treatment takes time. At OHSU, they set up a team of five people to obtain insurance to approve the treatment. "Payers are reluctant, of course, to accept therapy of such a high amount," says Dr. Wilson.

At the Bascom Palmer Eye Institute of the University of Miami, Florida, five patients are waiting for surgery, including one planned this week.

Byron Lam, professor of ophthalmology at the Institute, says they treated three patients with Luxturna, aged 9, 19 and 37 years old.

The two youngest patients had great results, he says, while the 37-year-old does not do as well. "We really can not say at this point if it has improved," says Dr. Lam.

The Institute of Clinical and Economic Examination, an independent non-profit organization that conducts cost-effectiveness analyzes on new treatments, concluded in February that the price of Luxturna exceeded the profitability thresholds generally cited, notably because its advantages long-term remain unknown.

"In general, we view this from the point of view of health care," said David Rind, ICER Medical Director, noting that there is no alternative treatment for many patients with genetic vision disorders.

But from a societal point of view, he notes, the cost is huge. "This therapy may well cost too much, but it would be a hard argument to deny blind children," he says.

Spark Therapeutics CEO Jeff Marrazzo said Luxturna's clinical trials followed patients for about four years and found that benefits remained. A Phase 3 clinical trial showed that 13 out of 20 participants who received Luxturna had a maximum improvement, measured by their ability to perform a low-light pathway compared to a control group.

By the end of June, the company had shipped 18 vials of Luxturna, enough to treat the two eyes of nine patients. The company did not specify how much it had shipped since.

According to Mr. Marrazzo, Spark offers a discount of up to 20% if the therapy does not work between 30 and 90 days and 2 and a half years later. He also proposes to pay reimbursable expenses to patients, including co-payments. "Of course, we will continue to insist that patients have more access, but we are delighted from the beginning," he says.

Luxturna treats patients with a defective RPE65 gene, including patients with congenital Leber amaurosis and retinitis pigmentosa.

Although rare, Leber's congenital amaurosis is part of a group of diseases called hereditary retinal diseases, caused by about 220 different genetic mutations.

Pharmaceutical companies are working on similar therapies for other vision disorders caused by unique genes.

OHSU researchers are working on several clinical trials for six other types of hereditary retinal dystrophies, says Dr. Wilson.

The most distant therapy is for patients with choroideremia, a condition that affects mostly men, often with impaired night vision.

"This type of gene therapy treatment is going to become very common, so I think setting up a process that allows patients to get the treatment in a timely manner is what needs to happen during the course of time. next years, "says Dr. Wilson. "It could become one of the most common types of eye surgeries we do."

Write to Sumathi Reddy at [email protected]